{"id":3224,"date":"2017-09-25T16:51:04","date_gmt":"2017-09-25T15:51:04","guid":{"rendered":"https:\/\/2018.eshg.org\/?page_id=3224"},"modified":"2019-06-14T14:31:17","modified_gmt":"2019-06-14T13:31:17","slug":"monday","status":"publish","type":"page","link":"https:\/\/2019.eshg.org\/index.php\/programme\/monday\/","title":{"rendered":"Monday, June 17"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box hundred-percent-fullwidth non-hundred-percent-height-scrolling\"  style='background-color: #ffffff;background-position: center center;background-repeat: no-repeat;padding-top:0px;padding-right:0px;padding-bottom:0px;padding-left:0px;'><div class=\"fusion-builder-row fusion-row \"><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-1 fusion-one-half fusion-column-first 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-1{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-1\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/sunday\"><span class=\"fusion-button-icon-divider button-icon-divider-left\"><i class=\"fa-angle-double-left fas\"><\/i><\/span><span class=\"fusion-button-text fusion-button-text-left\">Sunday<\/span><\/a><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-2 fusion-one-half fusion-column-last 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper fusion-alignright\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-2{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-2\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/Tuesday\"><span class=\"fusion-button-text fusion-button-text-right\">Tuesday<\/span><span class=\"fusion-button-icon-divider button-icon-divider-right\"><i class=\"fa-angle-double-right fas\"><\/i><\/span><\/a><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_1 fusion-builder-column-3 fusion-one-full fusion-column-first fusion-column-last fusion-column-no-min-height 1_1\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-menu-anchor\" id=\"S09\"><\/div><div class=\"fusion-sep-clear\"><\/div><div class=\"fusion-separator fusion-full-width-sep sep-none\" style=\"margin-left: auto;margin-right: auto;margin-top:30px;\"><\/div><div class=\"fusion-text\"><h4>08:30 &#8211; 10:00 hrs | <span style=\"color: #edb417;\">Concurrent Symposia S09-12<\/span> &amp; <span style=\"color: #e27cbd;\">Educational Sessions E09-E10\u00a0<\/span>&amp; <span style=\"color: #cfbfff;\">ELPAG Award Lecture A1<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-1 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-1 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(237,180,23,0.41); }.fusion-accordian  #accordion-3224-1 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-1 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-1 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-1 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-1 .panel-title a:hover, #accordion-3224-1 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-1 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-1 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-1\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#d5bbd0880fd1e2d88\" href=\"#d5bbd0880fd1e2d88\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S09 | Multidimensional nuclear organization<\/div><\/a><\/h4><\/div><div id=\"d5bbd0880fd1e2d88\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Tord Jonson, Zeynep T\u00fcmer<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PublishingTitle\">S09.1 Revealing the RNA layer of epigenome<\/p>\n<p class=\"AuthorBlock\"><b>Sheng Zhong<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S09.2 The architecture and mechanical properties of the nuclear lamina<\/p>\n<p class=\"AuthorBlock\"><b>Ohad Medalia<\/b>;<br \/>\nSwitzerland<\/p>\n<p class=\"PublishingTitle\">S09.3 3D genome organisation in disease: patient-specific chromatin interactions from primary tissue<\/p>\n<p class=\"AuthorBlock\"><b>Juanma Vaquerizas<\/b>;<br \/>\nGermany<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#16c1a10fb6416e12c\" href=\"#16c1a10fb6416e12c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S10 | From genome wide association study to mechanisms: fine-mapping<\/div><\/a><\/h4><\/div><div id=\"16c1a10fb6416e12c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Andres B\u00f8rglum, Cecilia Lindgren<br \/>\nRoom:\u00a0\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PublishingTitle\">S10.1 From association to causal variant(s): statistical methods for finemapping<\/p>\n<p class=\"AuthorBlock\"><b>Christian Benner<\/b>;<br \/>\nFinland<\/p>\n<p class=\"PublishingTitle\">S10.2 Taking it further: trans-ethnic association analysis accounting for ancestry increases power for discovery and improves fine-mapping resolution<\/p>\n<p class=\"AuthorBlock\"><b>Andrew Morris<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S10.3 Large scale integration of genetic and &#8216;omics&#8217; data to find susceptibility genes for obesity and fat distribution<\/p>\n<p class=\"AuthorBlock\"><b>Sara Pulit<\/b>;<br \/>\nNetherlands<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#50f573f1afa586a3c\" href=\"#50f573f1afa586a3c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S11 | \u201eDe novo\u201c\u201c developments in epilepsia<\/div><\/a><\/h4><\/div><div id=\"50f573f1afa586a3c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Christina Fagerberg, Karin Writzl<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PublishingTitle\">S11.1 De novo variants in neurodevelopmental disorders with epilepsy<\/p>\n<p class=\"AuthorBlock\"><b>Johannes Lemke<\/b>;<br \/>\nGermany<\/p>\n<p class=\"PublishingTitle\">S11.2 Parental Mosaicism in &#8220;De Novo&#8221; Epileptic Encephalopathies<\/p>\n<p class=\"AuthorBlock\"><b>Heather Mefford<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S11.3 Brain somatic mutations in malformations of cortical development with epilepsy<\/p>\n<p class=\"AuthorBlock\"><b>Stephanie Baulac<\/b>;<br \/>\nFrance<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#1266fe0de9e8924d5\" href=\"#1266fe0de9e8924d5\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S12 | Congenital disorders of glycosylation<\/div><\/a><\/h4><\/div><div id=\"1266fe0de9e8924d5\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Valerie Cormier-Daire, Trine Prescott<br \/>\nRoom:\u00a0\u00a0\u00a0 K1<\/p>\n<p class=\"PublishingTitle\">S12.1 Genetic heterogeneity in CDG: where are the patients?<\/p>\n<p class=\"AuthorBlock\"><b>Gert Matthijs<\/b>;<br \/>\nBelgium<\/p>\n<p class=\"PublishingTitle\">S12.2 CDG therapies<\/p>\n<p class=\"AuthorBlock\"><b>Eva Morava<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S12.3 Link between Golgi ion homeostasis defects and Congenital Disorders of Glycosylation<\/p>\n<p class=\"AuthorBlock\"><b>Francois Foulquier<\/b>;<br \/>\nFrance<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-2 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-2 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-3224-2 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-2 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-2 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-2 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-2 .panel-title a:hover, #accordion-3224-2 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-2 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-2 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-2\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#f24eee7b652b684c0\" href=\"#f24eee7b652b684c0\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E09 | Variant interpretation and high-throughput functional assays<\/div><\/a><\/h4><\/div><div id=\"f24eee7b652b684c0\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Malte Spielmann<br \/>\nRoom:\u00a0\u00a0\u00a0 Hall C<\/p>\n<p class=\"PublishingTitle\">E09.1 Unraveling the functional impact of thousands of p53 mutations<\/p>\n<p class=\"AuthorBlock\"><b>Eran Segal<\/b>;<br \/>\nIsrael<\/p>\n<p class=\"PublishingTitle\">E09.2 Understanding the functional effects of coding variation, at scale<\/p>\n<p class=\"AuthorBlock\"><b>Lea Starita<\/b>;<br \/>\nUnited States<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#1a9c79e075f4a1085\" href=\"#1a9c79e075f4a1085\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E10 | Meiosis: factory of genetic variation<\/div><\/a><\/h4><\/div><div id=\"1a9c79e075f4a1085\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Maria Jesus Sobrido<br \/>\nRoom:\u00a0\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PublishingTitle\">E10.1 Genetic diversity and its unexpected impacts on recombination, genome evolution, speciation and sterility in mammals<\/p>\n<p class=\"AuthorBlock\"><b>Simon Myers<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">E10.2 Meiotic recombination, gene conversion and mutation<\/p>\n<p class=\"AuthorBlock\"><b>Irene Tiemann-Boege<\/b>;<br \/>\nAustria<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-3 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-3 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:#cfbfff; }.fusion-accordian  #accordion-3224-3 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-3 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-3 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-3 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-3 .panel-title a:hover, #accordion-3224-3 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-3 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-3 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-3\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#00e7219aeb5ad56ad\" href=\"#00e7219aeb5ad56ad\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">A1 | ELPAG Award Session<\/div><\/a><\/h4><\/div><div id=\"00e7219aeb5ad56ad\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><\/p>\n<p>Chairs:\u00a0\u00a0 Sam Riedijk, Ramona Moldovan<br \/>\nRoom:\u00a0\u00a0\u00a0 Hall H2<\/p>\n<p class=\"PublishingTitle\">A1.1 ELPAG Award Lecture<\/p>\n<p class=\"AuthorBlock\"><b>Christine Patch<\/b>;<br \/>\nUnited Kingdom<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">10:00 &#8211; 10:30 hrs | Coffee Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">10:15 &#8211; 11:15 hrs | <\/span><span style=\"color: #83ccb1;\">Poster Viewing with Authors &#8211; Group C<br \/>\n<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">11:15-12:45 hrs |<\/span> <span style=\"color: #ffcc00;\">Corporate Satellites<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/corporate-satellite-meetings#Mo11\">More information<\/a><\/p>\n<\/div><div class=\"fusion-menu-anchor\" id=\"C13\"><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">11:15-12:45 hrs | Lunch Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4>13:00 &#8211; 14:30 hrs | <span style=\"color: #a7d189;\">Concurrent Sessions C16-C23<\/span> from submitted abstracts<\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-4 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-4 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(167,209,137,0.79); }.fusion-accordian  #accordion-3224-4 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-4 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-4 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-4 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-4 .panel-title a:hover, #accordion-3224-4 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-4 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-4 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-4\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#a361762c39ddb9fdd\" href=\"#a361762c39ddb9fdd\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C16 | Personalized and predictive medicine<\/div><\/a><\/h4><\/div><div id=\"a361762c39ddb9fdd\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 John McDermott, Hans Ehrencrona<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PresentationNumber\">C16.1 What if we would turn a diagnostic multi-cancer gene panel into a screening tool?<\/p>\n<p class=\"AuthorBlock\">L.F. Johansson, K.K. van Dijk-Bos, A.H. van der Hout, A.P. Knopperts, B. Leegte, J. ter Beest, Y.J. Vos, C.C. van Diemen, K. Kok, I.M. van Langen, M.A. Swertz, C. Wijmenga, R.K. Weersma, R.J. Sinke, B. Sikkema-Raddatz, R.H. Sijmons, <b>Helga Westers<\/b>;<br \/>\nGroningen, Netherlands<\/p>\n<p class=\"PresentationNumber\">C16.2 European Landscape of <i>CDH1<\/i> germline mutations: a new tool to understand hereditary diffuse gastric cancer (HDGC)<\/p>\n<p class=\"AuthorBlock\"><b>Jos\u00e9 Garc\u00eda Pel\u00e1ez*<\/b>, A. Monteiro, L. Sousa, S. Castedo, L. Garrido, G. Michils, V. Bours, R. de Putter, L. Golmard, M. Blanluet, C. Colas, P. Benusiglio, S. Aretz, I. Spier, R. H\u00fcneburg, L. Gieldon, E. Schr\u00f6ck, E. Holinski-Feder, V. Steinke, D. Calistri, G. Tedaldi, G. Nadia-Ranzani, M. Genuardi, C. Silveira, M. Krajc, A. Blatnik, S. Novakovic, A. Pati\u00f1o-Garc\u00eda, J. Soto, C. L\u00e1zaro, G. Capell\u00e1, J. Brunet-Vidal, J. Balma\u00f1a, E. Dom\u00ednguez-Garrido, M. Ligtenberg, E. Fewings, R. Fitzgerald, E. Woodward, G. Evans, H. Hanson, K. Lagerstedt-Robinson, S. Bajalica-Lagercrantz, M. Teixeira, N. Hoogerbrugge, M. Tischkowitz, C. Oliveira;<br \/>\nPorto, Portugal<\/p>\n<p class=\"PresentationNumber\">C16.3 Clinical applicability of the 313-SNP based polygenic risk score for breast cancer risk prediction<\/p>\n<p class=\"AuthorBlock\"><b>Inge M.M. Lakeman*<\/b>, M. Rodriguez-Girondo, A. Lee, A. Hollestelle, M.K. Schmidt, C.J. van Asperen, P. Devilee, HEBON consortium;<br \/>\nLeiden, Netherlands<\/p>\n<p class=\"PresentationNumber\">C16.4 High polygenic risk contributes to an early disease onset in common cardiometabolic diseases and cancers<b><\/b><\/p>\n<p class=\"AuthorBlock\"><b>Nina J. Mars*<\/b>, J. Koskela, P. Ripatti, T. Kiiskinen, A.S. Havulinna, L. Groop, A. Palotie, M. Daly, V. Salomaa, E. Wid\u00e9n, S. Ripatti;<br \/>\nHelsinki, Finland<\/p>\n<p class=\"PresentationNumber\">C16.5 Clinically actionable results from a multi-gene screening panel in an unselected &#8220;healthy&#8221; Canadian population<\/p>\n<p class=\"AuthorBlock\"><b>Heather J. Andrighetti*<\/b>, J.Y.J. Gu, A. Hazell, J. Furnival, M. Zarb, L. Velsher;<br \/>\nToronto, Canada<\/p>\n<p class=\"PresentationNumber\">C16.6 Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis<\/p>\n<p class=\"AuthorBlock\">L. Zhang, Y. Bao, M. Riaz, J. Tiller, D. Liew, X. Zhuang, D.J. Amor, A. Huq, L. Petelin, M. Nelson, P.J. James, I. Winship, J.J. McNeil, <b>Paul Lacaze<\/b>;<br \/>\nMelbourne, Australia<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#5a8cc5e6642dc6683\" href=\"#5a8cc5e6642dc6683\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C17 | Genetic mechanisms in cancer<\/div><\/a><\/h4><\/div><div id=\"5a8cc5e6642dc6683\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Robert Hofstra, Hildegunn Vetti<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PresentationNumber\">C17.1 Identification of lncRNA-mRNA network(s) that modulate prognosis in hepatocellular carcinoma patients<\/p>\n<p class=\"AuthorBlock\"><b>Caroline G. Lee<\/b>, L.J. Lim, J. Yu, H.C. Toh, P.K.H. Chow, A.Y.F. Chung, L.L.P.J. Ooi, S.S. Chong;<br \/>\nSingapore, Singapore<\/p>\n<p class=\"PresentationNumber\">C17.2 Germline <i>DGCR8<\/i> p.E518K alters miRNA profiles and predisposes to thyroid goiter and schwannomatosis<\/p>\n<p class=\"AuthorBlock\"><b>Barbara Rivera*<\/b>, J. Nadaf, M. Apellaniz-Ruiz, S. Fahiminiya, A. Saskin, A. Chong, S. Sharma, R. Wagener, T. Revil, Z. Harra, N. Hamel, N. Sabbaghian, K. Muchantef, C. Thomas, M. H\u00e9bert-Blouin, A. Bassenden, O. Mete, R. Paschke, M. Pusztaszeri, W. Paulus, A. Berghuis, J. Ragoussis, R. Siebert, S. Albrecht, R. Turcotte, M. Hasselblatt, M. Fabian, W. Foulkes;<br \/>\nMontreal, Canada<\/p>\n<p class=\"PresentationNumber\">C17.3 Structural variations at <i>CDH1<\/i> intronic <i>cis<\/i>-regulatory elements cause <i>CDH1<\/i>\/E-cadherin loss of function<\/p>\n<p class=\"AuthorBlock\"><b>Rita Barbosa-Matos*<\/b>, P. Oliveira, B. Mesquita, A. Andr\u00e9, H. Pinheiro, J. Carvalho, J. Senz, P. Kaurah, R. Bordeira-Carri\u00e7o, J. Bessa, D. Huntsman, A. Ferro, C. Oliveira;<br \/>\nPorto, Portugal<\/p>\n<p class=\"PresentationNumber\">C17.4 Skipping nonsense to maintain function: the paradigm of <i>BRCA2 <\/i>exon 12<b><\/b><\/p>\n<p class=\"AuthorBlock\"><b>La\u00ebtitia Meulemans*<\/b>, R. Mesman, S.M. Caputo, S. Krieger, M. Guillaud-Bataille, V. Caux-Moncoutier, M. L\u00e9one, N. Boutry-Kryza, J. Sokolowska, H. Tubeuf, O. Soukarieh, F. R\u00e9villion, C. Delnatte, F. Bonnet-Dorion, V. Guibert, F. Rousselet, V. Bourdon, S. Lizard, P. Vilquin, C. Grout, A. Drouet, F.M.G.R. Call\u00e9ja, L. Golmard, H. Vrieling, D. Stoppa-Lyonnet, C. Houdayer, T. Frebourg, M. Vreeswijk, A. Martins, P. Gaildrat;<br \/>\nRouen, France<\/p>\n<p class=\"PresentationNumber\">C17.5 Genome-wide association study identifies pathways associated with cervical cancer risk<\/p>\n<p class=\"AuthorBlock\"><b>Dhanya Ramachandran*<\/b>, J. Dennis, L. Fachal, P. Sch\u00fcrmann, I. Runnebaum, M. D\u00fcrst, P. Hillemanns, D.F. Easton, T. D\u00f6rk;<br \/>\nHannover, Germany<\/p>\n<p class=\"PresentationNumber\">C17.6 Mitochondrial damage due to a genetic origin explains the autoimmune response that leads to gastric neuroendocrine tumors<\/p>\n<p class=\"AuthorBlock\"><b>Oriol Calvete<\/b>, R. Marra, J. Reyes, J. Benitez;<br \/>\nMadrid, Spain<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#a0a38fba811deae0a\" href=\"#a0a38fba811deae0a\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C18 | Therapies<\/div><\/a><\/h4><\/div><div id=\"a0a38fba811deae0a\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Josef Gecz, Charlotte von der Lippe<br \/>\nRoom:\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PresentationNumber\">C18.1 AAVHSC15 Packaging Human Phenylalanine Hydroxylase Results in Sustained<i> in vivo <\/i>Correction of Phenylketonuria Following a Single IV Administration in the Murine Model<\/p>\n<p class=\"AuthorBlock\"><b>Seemin S. Ahmed<\/b>, M. Wang, J.L. Ellsworth, O.L. Francone, D. Faulkner, A. Sengooba, H. Rubin, S. Dollive, D. Lamppu, T. Wright, D. Kinch, A. Seymour;<br \/>\nBedford, United States<\/p>\n<p class=\"PresentationNumber\">C18.2 Viral vector therapy as a therapeutic option for peripheral nerve disease associated with metachromatic leukodystrophy.<\/p>\n<p class=\"AuthorBlock\"><b>Stephanie K. Newman*<\/b>, T. Rupar;<br \/>\nLondon, Canada<\/p>\n<p class=\"PresentationNumber\">C18.3 Safe and efficient personalised TALEN- and CRISPR\/Cas9-based gene correction therapy for \u03b2-thalassaemia by non-viral delivery to primary cells<\/p>\n<p class=\"AuthorBlock\"><b>Petros Patsalis*<\/b>, G. Turchiano, P. Papasavva, M. Romito, C. Loucari, C. Stephanou, S. Christou, M. Sitarou, C. Mussolino, T.I. Cornu, M.N. Antoniou, C.W. Lederer, T. Cathomen, M. Kleanthous;<br \/>\nNicosia, Cyprus<\/p>\n<p class=\"PresentationNumber\">C18.4 Therapeutic gene editing for Hutchinson-Gilford progeria syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Daniel Whisenant*<\/b>, K. Lim, G. Rev\u00eachon, M. Eriksson, J.S. Kim;<br \/>\nHuddinge, Stockholm, Sweden<\/p>\n<p class=\"PresentationNumber\">C18.5 High efficiency of CRISPR\/Cas9 gene editing of T158Mhot spot mutation in <i>MECP2 <\/i>gene<\/p>\n<p class=\"AuthorBlock\"><b>Susanna Croci*<\/b>, S. Daga, K. Capitani, F. Donati, M.L. Carriero, E. Frullanti, V. Lamacchia, R. Tita, A. Giliberti, E. Benetti, S. Furini, C. Lo Rizzo, A.M. Pinto, A. Auricchio, S.G. Conticello, A. Renieri, I. Meloni;<br \/>\nSiena, Italy<\/p>\n<p class=\"PresentationNumber\">C18.6 An open-label, phase 1\/2 study of miransertib (ARQ 092), an oral pan-AKT inhibitor, in patients (pts) with PIK3CA-related Overgrowth Spectrum (PROS) and Proteus Syndrome (PS): study design and preliminary results(NCT03094832).<\/p>\n<p class=\"AuthorBlock\">G. Zampino, <b>Chiara Leoni<\/b>, P.S. Buonuomo, I. Rana, R. Onesimo, M. Macchiaiolo, A. Diociaiuti, S. Livadiotti, N. Resta, Y. Sheldon, R. Savage, M. Lamar, K. Tith, J. Kazakin, B. Schwartz5, D.M. Adams, A. Bartuli;<br \/>\nRome, Italy<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#65fe330c70e313857\" href=\"#65fe330c70e313857\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C19 | From genome architecture to RNA biology<\/div><\/a><\/h4><\/div><div id=\"65fe330c70e313857\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0\u00a0 Ellen Heitzer, Oloug R\u00f8dningen<br \/>\nRoom:\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PresentationNumber\">C19.1 Phasing of complex genomic rearrangements reveal involvement of both homologous chromosomes in pre- and post-zigotic events<\/p>\n<p class=\"AuthorBlock\"><b>Claudia M. Carvalho<\/b>, C. Beck, Z. Akdemir, F. Sedlazeck, Q. Meng, J. Hu, H. Doddapaneni, E. Chen, S. Jhangiani, A. English, D. Muzni, R. Gibbs, C. Shaw, P. Hastings, J.R. Lupski;<br \/>\nHouston, United States<\/p>\n<p class=\"PresentationNumber\">C19.2 Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats<\/p>\n<p class=\"AuthorBlock\"><b>Maria Pettersson*<\/b>, C.M. Grochowski, J. Eisfeldt, J. Wincent, J.R. Lupski, J. Ottosson, L. Lovmar, J. Gacic, E. Syk Lundberg, D. Nilsson, C.M.B. Carvalho, A. Lindstrand;<br \/>\nStockholm, Sweden<\/p>\n<p class=\"PresentationNumber\">C19.3 Optical mapping of 22q11.2 low copy repeats reveals structural hypervariability<\/p>\n<p class=\"AuthorBlock\"><b>Lisanne Vervoort*<\/b>, W. Demaerel, Y. Mostovoy, F. Yilmaz, S. Pastor, M. Hestand, A. Swillen, E. Vergaelen, E.A. Geiger, C.R. Coughlin, S.K. Chow, D. McDonald-McGinn, B.E. Morrow, P. Kwok, M. Xiao, B.S. Emmanuel, T.H. Shaikh, J.R. Vermeesch;<br \/>\nLeuven, Belgium<\/p>\n<p class=\"PresentationNumber\">C19.4 Submicroscopic 13q32.1 deletions causing congenital microcoria modify the regulatory landscape of neighboring genes by enhancer adoption.<\/p>\n<p class=\"AuthorBlock\"><b>LUCAS Fares Taie<\/b>, B. Nedelec, P. David, C. Ang\u00e9e, S. Crippa, B. Passet, J. Vilotte, N. Chassaing, J. Kaplan, C. Kostic, P. Calvas, J. Rozet;<br \/>\nParis, France<\/p>\n<p class=\"PresentationNumber\">C19.5 First estimation of the scale of canonical 5&#8242; splice site GT&gt;GC mutations generating wild-type transcripts and their medical genetic implications<\/p>\n<p class=\"AuthorBlock\">J.H. Lin, X.Y. Tang, A. Boulling, W.B. Zou, E. Masson, Y. Fichou, L. Raud, M. Le Tertre, S.J. Deng, I. Berlivet, C. Ka, M. Mort, M. Hayden, G. Le Gac, D.N. Cooper, Z.S. Li, C. F\u00e9rec, Z. Liao, <b>Jian-Min M. Chen<\/b>;<br \/>\nBrest, France<\/p>\n<p class=\"PresentationNumber\">C19.6 Novel regulatory elements control translation of key stress response factors linked to disease<\/p>\n<p class=\"AuthorBlock\"><b>Justin Rendleman*<\/b>, V. Hronov\u00e1, D. Sultanov, S. Maity, A. Lei, M. Hatzoglou, L. Val\u00e1\u0161ek, C. Vogel;<br \/>\nNew York, United States<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#4005ed87812c47423\" href=\"#4005ed87812c47423\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C20 | Neuromuscular and neurodegenerative disorders<\/div><\/a><\/h4><\/div><div id=\"4005ed87812c47423\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Elsebet \u00d8stergaard, Andr\u00e9 Reis<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PresentationNumber\">C20.1 Large clinical cohort undergoing simultaneous single nucleotide and copy number variant analysis reveals broad mutation spectrum and high diagnostic yield for neuromuscular disorders<\/p>\n<p class=\"AuthorBlock\"><b>Emily Decker<\/b>, T.L. Winder, C.A. Tan, S. Klemm, H. White, J.M. Westbrook, J. Wang, A. Entezam, R. Truty, E. McNally, S. Aradhya;<br \/>\nSan Francisco, United States<\/p>\n<p class=\"PresentationNumber\">C20.2 Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy<\/p>\n<p class=\"AuthorBlock\"><b>Natalia Mendoza Ferreira*<\/b>, M. Karakaya, I. H\u00f6lker, D. Beijer, B. Schrank, K. Brigatti, C. Gonzaga-Jauregui, E. Puffenberger, G. Wunderlich, P. De Jonghe, T. Deconinck, K. Strauss, J. Baets, W. Brunhilde;<br \/>\nCologne, Germany<\/p>\n<p class=\"PresentationNumber\">C20.3 Recessive mutations in muscle-specific isoforms of <i>FXR1<\/i> cause congenital multi-minicore myopathy<\/p>\n<p class=\"AuthorBlock\"><b>Elisa Fern\u00e1ndez-N\u00fa\u00f1ez*<\/b>, M. Esta\u00f1, M.S. Zaki, M. Esteban, S. Donkervoort, C. Hawkins, J.A. Caparros-Martin, D. Saade, Y. Hu, V. Bolduc, K. Chao, J. Nevado, A. Lamuedra, R. Largo, G. Herrero-Beaumont, J. Regadera, C. Hern\u00e1ndez-Chico, E.F. TIzzano, V. Martinez-Glez, J.J. Carvajal, R. Zong, D. Nelson, G.A. Otaify, S. Temtamy, M. Aglan, M. Issa, C.G. B\u00f6nnemann, P. Lapunzina, G. Yoon, V.L. Ruiz-Perez;<br \/>\nMadrid, Spain<\/p>\n<p class=\"PresentationNumber\">C20.4 Novel mutations in MYBPC1 associated with myogenic tremor<\/p>\n<p class=\"AuthorBlock\"><b>Janis Stavusis<\/b>, J. Geist, B. Lace, N. Wright, D. Haubenberger, C. Bonneman, C. Ward, A. Kontrogianni-Konstantopoulos;<br \/>\nRiga, Latvia<\/p>\n<p class=\"PresentationNumber\">C20.5 Absence of NFASC isoform NF186 causes an autosomal recessive ataxia syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Malin Kvarnung*<\/b>, M. Shahsavani, F. Taylan, N. Breeuwsma, L. Laan, J. Schuster, Z. Jin, D. Nilsson, A. Lieden, B. Anderlid, M. Nordenskj\u00f6ld, E. Syk Lundberg, B. Birnir, N. Dahl, A. Nordgren, A. Lindstrand, A. Falk;<br \/>\nStockholm, Sweden<\/p>\n<p class=\"PresentationNumber\">C20.6 Peripheral monitoring of neurodegeneration using cell-free DNA methylation<\/p>\n<p class=\"AuthorBlock\"><b>Zac Chatterton<\/b>, R. Landin-Romero, C.T. Liang, K. Phan, W. Carr, G. Kamimori, M. Beeri, Y. Ge, A. Dwork, F. Haghighi, O. Piguet, G. Halliday, J. Kwok;<br \/>\nCamperdown, Australia<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#6a2dfe6c8d686ccdd\" href=\"#6a2dfe6c8d686ccdd\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C21 | Internal organs<\/div><\/a><\/h4><\/div><div id=\"6a2dfe6c8d686ccdd\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Marte Gj\u00f8l Haug, Ales Maver<br \/>\nRoom:\u00a0\u00a0 K1<\/p>\n<p class=\"SessionTime\">C21.1 Loss-of-function variants in myocardin cause congenital megabladder in humans and mice<br \/>\n<b> <\/b><\/p>\n<p class=\"AuthorBlock\"><b>Arjan Houweling<\/b>, G. Beaman, A. Postma, B. Gainous, K. Lichtenbelt, F. Brancati, F. Lopes, I. van der Made, A. Polstra, M. Robinson, K. Wright, A. Jackson, R. Genesio, L. Camerota, E. D&#8217;Angelo, E. Meijers-Heijboer, V. Christoffels, K. McHugh, B. Black, W. Newman, A. Woolf, E. Creemers;<br \/>\nAmsterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C21.2 Rare heterozygous deleterious <i>GDF6 <\/i>variants in patients with renal anomalies<\/p>\n<p class=\"AuthorBlock\"><b>Helge Martens*<\/b>, I. Hennies, M. Getwan, A. Kosfeld, F. Brand, A. Weiss, A. Gjerstad, Z. Gucev, R. Geffers, A. Christians, T. Seeman, A. Kispert, V. Tasic, A. Bjerre, S.S. Lienkamp, D. Haffner, R.G. Weber;<br \/>\nHannover, Germany<\/p>\n<p class=\"PresentationNumber\">C21.3 Exome sequencing identifies phenocopies in every fifth solved case in a cohort of 174 patients with hereditary nephropathies<\/p>\n<p class=\"AuthorBlock\"><b>Korbinian M. Riedhammer<\/b>, M.C. Braunisch, R. Guenthner, M. Wagner, B. Uetz, B. Lange-Sperandio, J. Hoefele;<br \/>\nMunich, Germany<\/p>\n<p class=\"PresentationNumber\">C21.4 Novel C-terminal <i>CUBN<\/i> variants associate with chronic proteinuria and normal renal function<\/p>\n<p class=\"AuthorBlock\"><b>Mathilda Bedin*<\/b>, O. Boyer, A. Servais, L. Villoing-Gaud\u00e9, O. Gribouval, C. Bole, F. Jabot-Hanin, P. Nitschk\u00e9, C. Antignac, M. Simons;<br \/>\nParis, France<\/p>\n<p class=\"PresentationNumber\">C21.5 Genome-wide association study of MRI liver iron content in 9,800 individuals yields new insights into its link with hepatic and extrahepatic diseases<\/p>\n<p class=\"AuthorBlock\">H.R. Wilman, C.A. Parisinos, N. Atabaki-pasdar, M. Kelly, E.L. Thomas, S. Neubauer, A. Hingorani, A. Mahajan, R. Patel, H. Hemingway, P.W. Franks, J. Bell, R. Banerjee, <b>Hanieh Yaghootkar<\/b>;<br \/>\nExeter, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C21.6 Complex compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway<\/p>\n<p class=\"AuthorBlock\"><b>Justyna A. Karolak<\/b>, M. Vincent, G. Deutsch, T. Gambin, B. Cogn\u00e9, O. Pichon, H.C. Mefford, J.N. Dines, M. Dishop, D. Mowat, A.J. Gifford, A.F. Lee, C.F. Boerkoel, T.M. Bartell, C. Ward-Melver, T. Besnard, F. Petit, I. Bache, Z. T\u00fcmer, M. Denis-Musquer, M. Joubert, J. Martinovic, E. Bieth, N. Chassaing, L. Devisme, L. Pasquier, M. Don, M. Orsaria, S. K\u00fcry, S. B\u00e9zieau, D.A. Scott, C.W. Brown, F. Scaglia, A.C. Tsai, W.K. Chung, G. Schauer, C.L. Mercer, A. van Haeringen, Q. Liu, E. Popek, Z.H. Coban Akdemir, J.R. Lupski, P. Szafranski, B. Isidor, C. Le Caignec, P. Stankiewicz;<br \/>\nHouston, United States<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#118558c4ae4e38563\" href=\"#118558c4ae4e38563\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C22 | Ethical, policy and psychosocial aspects in genomics<\/div><\/a><\/h4><\/div><div id=\"118558c4ae4e38563\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><br \/>\nChairs:\u00a0 Charlotta Ingvoldstad Malmgren, Rebecca Ann Pestoff<br \/>\nRoom:\u00a0\u00a0 H2<\/p>\n<p class=\"PresentationNumber\">C22.1 \u201cTo find out if it\u2019s genetic or not\u201d: Motivations, concerns and perceived impact of genome sequencing among young people<\/p>\n<p class=\"AuthorBlock\"><b>Celine Lewis<\/b>, C. Patch, M. Hill, L.S. Chitty, S.C. Sanderson;<br \/>\nLondon, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C22.2 Genetic health professionals\u2019 experiences returning results from diagnostic genomic sequencing to patients<\/p>\n<p class=\"AuthorBlock\"><b>Danya F. Vears*<\/b>, K. S\u00e9n\u00e9cal, P. Borry;<br \/>\nParkville, Australia<\/p>\n<p class=\"PresentationNumber\">C22.3 Parent experiences with ultra-rapid genomic sequencing in paediatric acute care<\/p>\n<p class=\"AuthorBlock\"><b>Gemma R. Brett<\/b>, M. Martyn, M. de Silva, K. Boggs, A. Baxendale, S. Borrie, S. King-Smith, S. Ayres, L. Gallacher, J. Pinner, S. Sandaradura, M. Wilson, C. Barnett, C. Patel, A. Vasudevan, E. Krzesinski, S. Lunke, Z. Stark;<br \/>\nMelbourne, Australia<\/p>\n<p class=\"PresentationNumber\">C22.4 The French FIND study (preliminary results). Psychological effects of actionable secondary findings obtained from exome sequencing in patients\/families with undiagnosed rare diseases.<\/p>\n<p class=\"AuthorBlock\"><b>Fran\u00e7oise Houdayer<\/b>, A. Chassagne, A. P\u00e9lissier, C. Peyron, S. Staraci, D. Sanlaville, P. Edery, M. Rossi, G. Lesca, A. Putoux, L. Pons, A. Cadenes, A. Baurand, C. Sawka, G. Bertolone, M. Spentchian, M. Yousfi, D. Salvi, E. Gautier, A. Vitobello, A. D\u00e9nomm\u00e9-Pichon, A. Faudet, B. Keren, A. Labalme, N. Chatron, C. Abel, S. Dupuis-Girod, A. Poisson, J. Buratti, C. Mignot, A. Afenjar, S. Whalen, P. Charles, S. Heide, L. Mouthon, C. Thauvin-Robinet, C. Philippe, F. Tran Mau-Them, S. Moutton, A. Sorlin, S. Nambot, C. Binquet, D. H\u00e9ron, M. Gargiulo, L. Faivre;<br \/>\nBron, France<\/p>\n<p class=\"PresentationNumber\">C22.5 Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies<\/p>\n<p class=\"AuthorBlock\"><b>Mahsa Shabani*<\/b>, S. Dyke, L. Marelli, P. Borry;<br \/>\nLeuven, Belgium<\/p>\n<p class=\"PresentationNumber\">C22.6 Are requirements to deposit data in research repositories compatible with the GDPR?<\/p>\n<p class=\"AuthorBlock\"><b>Deborah Mascalzoni<\/b>, H.B. Bentzen, I. Budin-Lj\u00f8sne, L.A. Bygrave, J. Bell, E.S. Dove, C. Fuchsberger, K. Hveem, M.T. Mayrhofer, V. Meraviglia, D.R. O\u2019Brien, C. Pattaro, P.P. Pramstaller, V. Raki\u0107, A. Rossini, M. Shabani, D.J.B. Svantesson, M. Tomasi, L. Ursin, M. Wjst, J. Kaye;<br \/>\nBolzano, Italy<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#193da22fcb0490857\" href=\"#193da22fcb0490857\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C23 | Best Posters 2<\/div><\/a><\/h4><\/div><div id=\"193da22fcb0490857\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Joris Veltmann, Gunnar Houge<br \/>\nRoom:\u00a0\u00a0 Live Stream Area (Exhibition Hall)<\/p>\n<p class=\"PublishingTitle\">Biallelic sequence and structural variants in <i>RAX2 <\/i>are a novel cause for autosomal recessive inherited rod-dominated retinal disease<\/p>\n<p class=\"AuthorBlock\"><b>Stijn Van de Sompele*<\/b>, C. Smith, M. Karali, M. Corton, K. Van Schil, F. Peelman, T. Cherry, T. Rosseel, H. Verdin, J. Derolez, T. Van Laethem, K.N. Khan, M. McKibbin, C. Toomes, M. Ali, A. Torella, F. Testa, B. Jimenez, F. Simonelli, J. De Zaeytijd, J. Van den Ende, B.P. Leroy, F. Coppieters, C. Ayuso, C.F. Inglehearn, S. Banfi, E. De Baere;<br \/>\nGhent, Belgium<\/p>\n<p class=\"PublishingTitle\">Diagnostic yield of whole exome sequencing-based genetic testing for patients with inherited eye diseases<\/p>\n<p class=\"AuthorBlock\">K. Wells, K. K\u00e4mpj\u00e4rvi, <b>Emma M\u00e5rtensson<\/b>, M. Mehine, J. K\u00e4ns\u00e4koski, L. Sarantaus, H. V\u00e4stinsalo, J. Schleit, I. Saarinen, M. Muona, S. Myllykangas, T. Alastalo, J.W. Koskenvuo, S. Tuupanen;<br \/>\nHelsinki, Finland<\/p>\n<p class=\"PublishingTitle\"><b>Mutations in <i>PLS1, <\/i>encoding fimbrin, cause autosomal dominant non-syndromic hearing loss (ADNSHL).<\/b><\/p>\n<p class=\"AuthorBlock\"><b>Anna Morgan*<\/b>, D. Koboldt, E. Barrie, E. Crist, M. Mezzavilla, F. Faletra, T. Mosher, R. Wilson, K. Manickam, P. Gasparini, D. Dell&#8217;Orco, G. Girotto;<br \/>\nTrieste, Italy<\/p>\n<p class=\"PublishingTitle\">Mutations in genes involved in MAPK pathway cause lymphatic anomalies<\/p>\n<p class=\"AuthorBlock\"><b>Dong Li<\/b>;<br \/>\nPhiladelphia, United States<\/p>\n<p class=\"PublishingTitle\"><b>Biallelic variants in <i>DYNC1I2<\/i> cause syndromic microcephaly with intellectual disability, global developmental delay and dysmorphic facial features<\/b><\/p>\n<p class=\"AuthorBlock\"><b>Erica E. Davis<\/b>, M. Ansar, F. Ullah, S.A. Paracha, D.J. Adams, A. Lai, L. Pais, J. Iwaszkiewicz, F. Millan, M.T. Sarwar, Z. Agha, S.F. Shah, A.A. Qaisar, E. Falconnet, V. Zoete, E. Ranza, P. Makrythanasis, F.A. Santoni, J. Ahmed, N. Katsanis, C. Walsh, S.E. Antonarakis;<br \/>\nDurham, United States<\/p>\n<p class=\"PublishingTitle\">Pathogenic <i>WDFY3<\/i> variants cause neurodevelopmental disorders and opposing effects on brain size<\/p>\n<p class=\"AuthorBlock\"><b>Diana Le Duc*<\/b>, C. Giulivi, S.M. Hiatt, E. Napoli, A. Panoutsopoulos, A. De Crescenzo, U. Kotzaeridou, S. Syrbe, E. Anagnostou, M. Azage, R. Bend, A. Begtrup, N.J. Brown, B. B\u00fcttner, M.T. Cho, G.M. Cooper, J.H. Doering, C. Dubourg, D.B. Everman, M.S. Hildebrand, F.J. Reynoso Santos, B. Kellam, J. Keller-Ramey, J.R. Lemke, S. Liu, D. Niyazov, K. Payne, R. Person, C. Qu\u00e9lin, R.E. Schnur, B.T. Smith, J. Strober, S. Walker, M. Wallis, L. Walsh, S. Yang, R. Yuen, A. Ziegler, H. Sticht, M.C. Pride, V. Mart\u00ednez-Cerde\u00f1o, J. Silverman, S.W. Scherer, K.S. Zarbalis, R. Abou Jamra;<br \/>\nLeipzig, Germany<\/p>\n<p class=\"PublishingTitle\">Inactivation of <i>KLHL24<\/i> results in myopathy and cardiomyopathy<\/p>\n<p class=\"AuthorBlock\"><b>Carola Hedberg-Oldfors<\/b>, A. Abramsson, D. Osborn, O. Danielsson, A. Fazlinezhad, Y. Nilipour, L. H\u00fcbbert, I. Nennesmo, K. Visuttijai, J. Bharj, E. Petropoulou, A. Shoreim, B. Vona, N. Ahangari, M. D\u00e1vila L\u00f3pez, M. Doosti, R. Kumar Banote, R. Maroofian, M. Edling, M. Taherpour, H. Zetterberg, E. Ghayoor Karimiani, A. Oldfors, Y. Jamshidi;<br \/>\nGothenburg, Sweden<\/p>\n<p class=\"PublishingTitle\"><b>Genetic analysis of autosomal dominant motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough<\/b><\/p>\n<p class=\"AuthorBlock\"><b>Shiroh Miura<\/b>, K. Kosaka, R. Fujioka, S. Mori, H. Shibata;<br \/>\nKurume, Japan<\/p>\n<p class=\"PublishingTitle\"><b>49 novel recessive candidate genes for intellectual disability and visual impairment in 350 consanguineous families<\/b><\/p>\n<p class=\"AuthorBlock\"><b>Stylianos E. Antonarakis<\/b>, S.A. Paracha, S. Imtiaz, A. Nazir, Y.M. Waryah, P. Makrythanasis, S. Qureshi, J. Khan, E. Falconnet, M. Guipponi, C. Borel, M.A. Ansari, E. Frengen, E. Ranza, F.A. Santoni, I. Shah, K. Gul, J. Ahmed, M.T. Sarwar, A.M. Waryah, M. Ansar;<br \/>\nGeneva, Switzerland<\/p>\n<p class=\"PublishingTitle\">Gating-affecting mutations in <i>KCNK4<\/i> cause a recognizable neurodevelopmental syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Francesca Clementina C. Radio<\/b>, P. Calligari, V. Caputo, M.L. Dentici, N. Falah, F. High, F. Pantaleoni, S. Barresi, A. Ciolfi, S. Pizzi, A. Bruselles, R. Person, S. Richards, M.T. Cho, D.J. Claps Sepulveda, S. Pro, R. Battini, G. Zampino, M.C. Digilio, G. Bocchinfuso, B. Dallapiccola, L. Stella, C.K. Bauer, M. Tartaglia;<br \/>\nRome, Italy<\/p>\n<p class=\"PublishingTitle\"><i>SEC31A <\/i>mutation affects ER homeostasis, causing neurological syndrome<\/p>\n<p class=\"AuthorBlock\"><b>Daniel Halperin*<\/b>, R. Kadir, Y. Perez, M. Drabkin, Y. Yogev, O. Wormser, E. Berman, E. Eremenko, B. Rotblat, Z. Shorer, L. Gradstein, I. Shelef, R. Birk, U. Abdu, H. Flusser, O.S. Birk;<br \/>\nBeer-Sheva, Israel<\/p>\n<p class=\"PublishingTitle\">Genomic overlap between neurodevelopmental disorders and congenital heart defects<\/p>\n<p class=\"AuthorBlock\"><b>S. Safizadeh Shabestari<\/b>, S. Sopariwala, A. Ali, N. K. Al Jezawi, G. Begum, B. Berdiev, S. W. Scherer, A. Alsheikh-Ali, A. AlBanna, A. Tayoun, M. Speevak, D. J. Stavropoulos, M. Uddin;<br \/>\nDubai, United Arab Emirates<\/p>\n<p class=\"PublishingTitle\">Genetic counselling for the Inuit indigenous population of Nunavut, Canada: an exercise in cultural competency<\/p>\n<p class=\"AuthorBlock\"><b>Mireille Cloutier<\/b>;<br \/>\nOttawa, Canada<\/p>\n<p class=\"PublishingTitle\">The discussion of uncertainty concerning multigene panel testing during cancer genetic counseling. An observational study.<\/p>\n<p class=\"AuthorBlock\"><b>Niki M. Medendorp<\/b>, M.A. Hillen, P.E.A. van Maarschalkerweerd, C.M. Aalfs, M.G. Ausems, S. Verhoef, L.E. van der Kolk, L.P.V. Berger, M.R. Wevers, A. Wagner, B.A.H. Caanen, A.M. Stiggelbout, E.M.A. Smets;<br \/>\nAmsterdam, Netherlands<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-menu-anchor\" id=\"W12\"><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">14:30 &#8211; 15:00 hrs | Fruit Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4>15:00-16:30 hrs | <span style=\"color: #bec1c4;\">Workshops W12-W18<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-5 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-5 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:#cccccc; }.fusion-accordian  #accordion-3224-5 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-5 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-5 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-5 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-5 .panel-title a:hover, #accordion-3224-5 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-5 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-5 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-5\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#e4d6b0bee1fb6af62\" href=\"#e4d6b0bee1fb6af62\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W12 | Dysmorphology II<\/div><\/a><\/h4><\/div><div id=\"e4d6b0bee1fb6af62\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: Hall C<\/p>\n<p><em>Workshop Organisers:\u00a0 Jill Clayton-Smith, Sofia Douzgou, Dian Donnai<\/em><\/p>\n<p><strong>About the workshop:<\/strong><\/p>\n<p>We invite all those working in the field of syndrome diagnosis, and those who wish to learn more about the art and science of Dysmorphology, to attend this session. Please participate by bringing along <u>short PowerPoint presentations<\/u> of your distinctive unsolved cases or your instructive solved cases to one of the two Dysmorphology workshops. Even if you do not have cases to bring, we also encourage workshop attendees to share their knowledge of dysmorphology and broader genetic mechanisms by participation in the case discussions. As we move further into the genomic era we anticipate more discussion around variant interpretation and so we would also welcome experts in this area to join us.<\/p>\n<p>We also welcome <u>\u201csolved\u201d cases<\/u> that you may have presented as unknowns at the ESHG in previous years, but where you now have an answer. These are very interesting and instructive for the audience.<\/p>\n<p><strong>Presentation Format:<\/strong><\/p>\n<p>Presentations should include <u>no more than 6 slides<\/u> and you should aim to present your case <u>in 3 minutes<\/u>, leaving some time for discussion.\u00a0 Slides should cover the main points of the history, include good quality clinical photos of the most distinctive features and give results of investigations undertaken. Although we do not necessarily expect every patient to have had whole genome or exome sequencing, cases must have undergone a reasonable diagnostic workup before presentation and permission should have been sought from patients\/parents for presentation.<\/p>\n<p>Please being your presentations on a memory stick to the respective lecture hall 30 minutes before the sessions begin to book your place for presentation.<\/p>\n<p>We look forward to seeing you!<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#9a9d7493d36559264\" href=\"#9a9d7493d36559264\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W13 | Copy Number Variant Interpretation and Classification<\/div><\/a><\/h4><\/div><div id=\"9a9d7493d36559264\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 K2+K3<\/p>\n<p><em>Workshop Organisers:\u00a0 Nicole de Leeuw, Erica Gerkes, Zeynep T\u00fcmer<\/em><\/p>\n<p><strong>About the workshop:<br \/>\n<\/strong><\/p>\n<p>Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session. The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome\/Genome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, including reduced-penetrant, recurrent CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene. We will have an app-based feedback system available for this interactive session, so please bring your smart phone, tablet or laptop.<\/p>\n<p><strong>Programme Overview:<\/strong><\/p>\n<p>15:00-15:30<br \/>\n<strong>Inherited CNVs: the good, the bad, and the (very) rare<\/strong><br \/>\n<i>Nicole de Leeuw, University Medical Center Nijmegen, Netherlands<\/i><\/p>\n<p>15:30-16:00<br \/>\n<strong>Unexpected results with a merciful ending<\/strong><br \/>\n<i>Erica Gerkes, University Medical Center Groningen, Netherlands <\/i><\/p>\n<p>16:00-16:30<br \/>\n<strong>From selected abstracts<\/strong> (see below)<i><br \/>\nmoderated by Zeynep T\u00fcmer, Kennedy Center, Department of Clinical Genetics, Rigshospitalet, Denmark<\/i><\/p>\n<ul>\n<li>Gain-of-function trypsinogen copy number variants causing chronic pancreatitis: types, generative mechanisms and genotype\/phenotype relationship &#8211; <em>F\u00e9rec C, Inserm, Brest France<\/em><\/li>\n<li>The potential of array- and NGS-based diagnostics: a FOXP1 mutation, a distal 16p11.2 microdeletion and 45,X\/46,XX mosaicism explaining the phenotype, and a pre-CLL as an incidental finding &#8211; <em>Berland \u00a0S, Dept Medical Genetics, Haukeland University Hospital, Bergen, Norway<\/em><\/li>\n<li>CNV within CNV: multi-allelic variation of flanking low-copy repeat number modifies phentoype penetrance in 16p11.2 deletion &#8211; <em>Giannuzzi G, University of Lausanne, Switzerland<\/em><\/li>\n<li>Title to be announced &#8211; <em>Wakeling M, University of Exeter Medical School, Exeter, UK<\/em><\/li>\n<li>Fanconi anemia due to homozygous deletion in FANCA which was diagnosed by evaluating low coverage regions &#8211; <em>Dogan \u00d6A, Dept Pediatric Genetics, Umraniye Education and Research Hospital, \u0130stanbul, Turkey <\/em><\/li>\n<\/ul>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#5ba4619fb7aadcb0b\" href=\"#5ba4619fb7aadcb0b\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W14 | Molecular Newborn screening vs. newborn testing<\/div><\/a><\/h4><\/div><div id=\"5ba4619fb7aadcb0b\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 F1+F2+F3<\/p>\n<p><em>Workshop Organisers:\u00a0 Asbj\u00f8<\/em><em>rg Stray-Pederson, Lucy Raymond<\/em><\/p>\n<p><b>Targeted newborn screening versus genome wide newborn testing<\/b><\/p>\n<p><b>About the workshop:<br \/>\n<\/b>New treatment opportunities for congenital disorders challenge old statements and strategies for newborn screening. For many of the severe and treatable congenital disorders no biochemical marker can be used for screening purposes, while genetic testing may rapidly identify disease risk alleles. Effective therapies introduced before manifestation of symptoms may ameliorate disease and result in better long term outcome, also for disorders not regarded as severe and life-threatening, such as early onset retinal dystrophy. In this workshop we want to discuss current status for newborn screening in Europe in light of the implementation of NGS in health care moving towards offering babies without symptoms broad genetic testing.<\/p>\n<p><b>Programme Overview:<br \/>\n<\/b><br \/>\n15:00-15:05<br \/>\n<strong>Introduction<\/strong><br \/>\n<i>Lucy Raymond, United Kingdom<\/i><\/p>\n<p>15:05-15:20<br \/>\n<strong>Genomic sequencing in Newborn Screening Programs &#8211; ethical considerations<\/strong><br \/>\n<i>Pascal Borry, Belgium<\/i><\/p>\n<p>15:20-15:45<br \/>\n<strong>Genomic sequencing of healthy babies &#8211; Are we there yet?<\/strong><br \/>\n<i>Pankaj Agrawal, United States<br \/>\n<\/i><br \/>\n15:45-16:00<br \/>\n<strong>NGS in newborn screening in Europe, current status<\/strong><br \/>\n<i>Asbj\u00f8rg Stray-Pedersen, Norway<br \/>\n<\/i><br \/>\n16:00-16:30<br \/>\n<strong>Panel Discussion<\/strong><br \/>\n<i>Pascal Borry (Belgium), Pankaj Agrawal (United States), Lucy Raymond (United Kingdom), Asbj\u00f8rg Stray-Pedersen (Norway)<\/i><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#1f429ec514793c042\" href=\"#1f429ec514793c042\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W15 | European Reference Networks \u2013 What is in it for me?<\/div><\/a><\/h4><\/div><div id=\"1f429ec514793c042\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 F4+F5<\/p>\n<p><em>Workshop Organisers:\u00a0 Conxi Lazaro, Carla Oliveira<\/em><\/p>\n<p><strong>About the workshop:<\/strong><\/p>\n<p>This workshop is about European Reference Networks (ERNs), which are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex or rare diseases and conditions that require highly specialized treatment, and concentrated knowledge and resources. This workshop intends to increase awareness of health professionals and scientists working in the field of Genetics in Europe, about these Networks. Attendees will learn about the novel and disruptive concept of ERNs, how to participate in these new networks as well as how to participate in these new organisational culture.<\/p>\n<p>15:00 \u2013 15:10<br \/>\n<strong>Introduction: What are ERNs and why were they created?<br \/>\n<\/strong><em>Birute Tumiene, ESHG Board and ERN Board of Member States, Vilnius University Hospital, Lithuania<\/em><\/p>\n<p>15:10 \u2013 15:20<br \/>\n<strong>The role of European Patient Advocacy Groups (ePAG) in ERNs<\/strong><br \/>\n<em>Matt Bolz-Johnson, ERN &amp; Healthcare Advisor EURORDIS<\/em><\/p>\n<p>15:20 \u2013 15:30<br \/>\n<strong>The role of the Genetics Community in ERNs and the Solve-RD link<\/strong><br \/>\n<em>Olaf Riess, Co-Coordinator Solve-RD project, Universit\u00e4tsklinikum T\u00fcbingen, Germany<\/em><\/p>\n<p>15:30 \u2013 15:45<br \/>\n<strong>Round Table, Q&amp;A<\/strong><\/p>\n<p>15:45 \u2013 15:55<br \/>\n<strong>Clinical patient management system (CPMS), Data collection and registries<br \/>\n<\/strong><em>Alesandra Ferlini, Medical Genetics coordinator ERN on neuromuscular diseases (ERN EURO-NMD), Section of Medical Genetics, University of Ferrara, Italy<\/em><\/p>\n<p>15:55 \u2013 16:05<br \/>\n<strong>Knowledge generation: guidelines and implementation<\/strong><br \/>\n<em>Nicoline Hoogerbrugge, Coordinator ERN on genetic tumour risk syndromes (ERN GENTURIS), Radboud University Medical Center Nijmegen, The Netherlands<\/em><\/p>\n<p>16:05 \u2013 16:15<br \/>\n<strong>Spreading the knowledge at the National level<\/strong><br \/>\n<em>Elke Holinski-Feder, Coordinator of national coordinators ERN GENTURIS, MGZ, Medical Genetics Center Munich, Germany<\/em><\/p>\n<p>16:15 \u2013 16:30<br \/>\n<strong>Round table, Q&amp;A<\/strong><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#296f786ce7f9eb736\" href=\"#296f786ce7f9eb736\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W16 | Opportunistic or non opportunistic genetic screening? <\/div><\/a><\/h4><\/div><div id=\"296f786ce7f9eb736\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 G2+G3<\/p>\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><\/p>\n<p><em>Workshop Organisers:\u00a0 Francesca Forzano, Martina Cornel<\/em><\/p>\n<p><strong>Opportunistic genetic screening in diagnostics and research: a European perspective<\/strong><\/p>\n<p>The European Society of Human Genetics (ESHG) has released Recommendations on WGS in health care in 2013, according to which genomic analysis should be as targeted as possible. In the same year, the American College of Medical Genetics and Genomics (ACMG) recommended to purposely analyze a series of \u2018actionable mutations\u2019 in every case a clinical sequencing would have taken place, a strategy defined as &#8216;opportunistic screening&#8217; (OS). More recently, several OS initiatives in genomic medicine have been set in individual European countries, including the UK, France and Belgium, often with discordant procedures. The rapid scientific advances in NGS and the divergences between different views and initiatives in OS, require a renewed discussion on the rationale and the strategies. The ESHG will contribute to this debate by means of Recommendations, currently in their draft phase.<\/p>\n<p>15:00-15:15<br \/>\n<strong>EU survey on Opportunistic Screening practices and views<\/strong><br \/>\n<em>Heidi Howard, Sweden<\/em><\/p>\n<p>15:15-15:30<br \/>\n<strong>PPPC-Eurogentest draft recommendations on Opportunistic Screening<\/strong><br \/>\n<em>Guido De Wert, The Netherlands<\/em><\/p>\n<p>15:30-15:45<br \/>\n<strong>French Society of Predictive and Personalized Medicine Guidelines for reporting secondary findings of genome sequencing in cancer genes<\/strong><br \/>\n<em>Pascal Pujol, France<br \/>\n<\/em><\/p>\n<p>15:45-16:30<br \/>\n<strong>Panel Discussion<\/strong><br \/>\n<em>Sandi Deans (United Kingdom), Milan Macek (Czech Republic), Heidi Howard (Sweden), Guido De Wert (The Netherlands), Pascal Pujol (France)<\/em><\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#81cc9eff46879cd0e\" href=\"#81cc9eff46879cd0e\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W17 | Using the Ensembl VEP for analysing variants in rare and common disease<\/div><\/a><\/h4><\/div><div id=\"81cc9eff46879cd0e\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 K1<\/p>\n<p><em>Workshop Organiser:\u00a0 Emily Perry<\/em><\/p>\n<p><strong>Programme overview:<\/strong><\/p>\n<p>The Ensembl Variant Effect Predictor (VEP) allows analysis of variants from sequencing experiments to determine the likely effect of the variants on genes, allowing for the prioritisation for further experiments. This workshop will familiarise the audience with general usage of the VEP, as well as two specialised use-cases: analysis of a short list of variants from GWAS to identify likely indirect effects on genes and analysis of genome-wide data to identify variants likely to cause rare disease. Participants who bring their own laptops will have a chance to try out using the VEP online, as well as run VEP jobs using the script, by downloading Docker images.<\/p>\n<p><strong>Speakers:<\/strong><\/p>\n<p>Emily Perry, Ensembl Outreach Project Leader<br \/>\nIrina Armean, Ensembl Variation Bioinformatician<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#2ef344aa25aa9dbb1\" href=\"#2ef344aa25aa9dbb1\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W18 | Pharmacogenomics in practice<\/div><\/a><\/h4><\/div><div id=\"2ef344aa25aa9dbb1\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 H2<\/p>\n<p><em>Workshop Organisers:\u00a0 Vita Dolzan, Volker Lauschke, Andrea Gaedigk<\/em><\/p>\n<p><strong>About the Workshop:<\/strong><br \/>\nIt is widely acknowledged that inherited genetic variations in genes implicated in drug pharmacokinetics and drug response may modulate treatment efficacy or predispose to adverse drug reactions. The current treatment recommendations are largely focused on common functional pharmacogenetic polymorphisms. Although recent sequencing projects revealed a large number of rare genetic variants in genes encoding proteins involved in drug metabolism, transport, and response, there are still many obstacles to be overcome, before NGS-based test results can be integrated into personalized drug treatment.<\/p>\n<p><strong>The workshop aims to address the following questions:<\/strong><br \/>\nAre these rare genetic variants revealed by NGS data likely to account for a substantial part of the unexplained inter-individual differences in drug metabolism phenotypes?<br \/>\nWill the information revealed by NGS data add important information to predict drug response and provide useful information for personalization of pharmacological treatment?<br \/>\nAre the resources and tools available to translate the genotyping data into the clinically meaningful phenotypes with drug prescribing information?<\/p>\n<p>In the first part of workshop, Volker Lauschke will focus on computational interpretation of the putative functional consequences of genetic variants and will also demonstrate how to use ANNOVAR to assess genetic variation using &gt;15 computational algorithms.<\/p>\n<p>In the second part of workshop, Andrea Gaedigk will introduce participants to pharmacogenetic (PGx) resources such as PharmVar, PharmGKB, CPIC and the PGRN. The participants will be able to learn what kind of pharmacogenetic information these resources provide and how to actively engage using live demonstrations of respective websites.<\/p>\n<p>Questions and feedback are actively encouraged not only during the Discussion but also throughout the presentations. Exemplary analyses can be run on variants suggested by the audience.<\/p>\n<p><strong>Programme Overview:<\/strong><\/p>\n<p>15:00-15:10<br \/>\n<strong>Welcome and opening remarks<\/strong><br \/>\n<em>Vita Dol\u017ean, Slovenia<\/em><\/p>\n<p>15:10-15:40<br \/>\n<strong>Implementation of Next Generation Sequencing into clinical advice &#8211; challenges and opportunities<\/strong><br \/>\n<em>Volker Lauschke, Sweden<\/em><\/p>\n<p>15:40-16:10<br \/>\n<strong>Drug metabolizer phenotpes, star alleles, or gene activity scores: how to move forward to clinical practice<\/strong><br \/>\n<em>Andrea Gaedigk, United States<\/em><\/p>\n<p>16:10-16:30<br \/>\n<strong>Discussion, Q &amp; A<\/strong><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">15:00-16:30 hrs | <span style=\"color: #ffcc00;\">Corporate Satellites<\/span><br \/>\n<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/corporate-satellite-meetings#Mo15\">More information<\/a><\/p>\n<\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">16:30 &#8211; 17:00 hrs | Coffee Break, Exhibition, Poster Viewing<\/span><\/h4>\n<\/div><div class=\"fusion-menu-anchor\" id=\"S13\"><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">16:45 &#8211; 17:45 hrs |<\/span> <span style=\"color: #83ccb1;\">Poster Viewing with Authors &#8211; Group D<br \/>\n<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4>17:45 &#8211; 19:15 hrs | <span style=\"color: #edb417;\">Concurrent Symposia S13-S16 &amp; <span style=\"color: #e27cbd;\">Educational Sessions E11-E12<\/span><\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-6 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-6 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(237,180,23,0.41); }.fusion-accordian  #accordion-3224-6 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-6 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-6 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-6 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-6 .panel-title a:hover, #accordion-3224-6 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-6 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-6 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-6\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#61d9f4786ce0f8a4a\" href=\"#61d9f4786ce0f8a4a\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S13 | Understanding mutations to detect cancer<\/div><\/a><\/h4><\/div><div id=\"61d9f4786ce0f8a4a\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Svetlana Bajalica-Lagercrantz, Conxi Lazaro<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PublishingTitle\">S13.1 Understanding mutational processes and tumor biology<\/p>\n<p class=\"AuthorBlock\"><b>Abel Gonz\u00e1lez-P\u00e9rez<\/b>;<br \/>\nSpain<\/p>\n<p class=\"PublishingTitle\">S13.2 Finding a germline mutation during tumor testing: implications for the patient and the family<\/p>\n<p class=\"AuthorBlock\"><b>Jeffrey Weitzel<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S13.3 Liquid biopsy to follow clonal evolution in cancer<\/p>\n<p class=\"AuthorBlock\"><b>Benedetta Mussolin<\/b>;<br \/>\nItaly<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#27d8ca4e0f90dd254\" href=\"#27d8ca4e0f90dd254\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S14 | Debate: Genomics and the Media<\/div><\/a><\/h4><\/div><div id=\"27d8ca4e0f90dd254\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Birgitte Dinness, Francesca Forzano<br \/>\nRoom:\u00a0\u00a0 F1+F2+F3<\/p>\n<p><img loading=\"lazy\" class=\"alignnone wp-image-6695 \" src=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png\" alt=\"\" width=\"46\" height=\"28\" srcset=\"https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-200x120.png 200w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew-320x202.png 320w, https:\/\/2019.eshg.org\/wp-content\/uploads\/2019\/06\/ELPAGNew.png 350w\" sizes=\"(max-width: 46px) 100vw, 46px\" \/><\/p>\n<p class=\"PublishingTitle\">S14.1 Introduction<\/p>\n<p class=\"AuthorBlock\"><b>Vivienne Parry<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S14.2 Genetics and Social Media<\/p>\n<p class=\"AuthorBlock\"><b>Ellen Matloff<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S14.3 Human germline genome editing: The public and the pundits<\/p>\n<p class=\"AuthorBlock\"><b>Francoise Baylis<\/b>;<br \/>\nCanada<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#073f1f02b60c1262e\" href=\"#073f1f02b60c1262e\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S15 | Regulatory Landscapes<\/div><\/a><\/h4><\/div><div id=\"073f1f02b60c1262e\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Elfride de Baere, Martin Kircher<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PublishingTitle\">S15.1 Enhancer Logic and Mechanics in Development and Disease<\/p>\n<p class=\"AuthorBlock\"><b>Delphine Douillet<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S15.2 Regulation of disease-associated gene expression in the 3D genome<\/p>\n<p class=\"AuthorBlock\"><b>Wouter De Laat<\/b>;<br \/>\nNetherlands<\/p>\n<p class=\"PublishingTitle\">S15.3 Identifying DNA-regulatory elements in non-traditional model systems<\/p>\n<p class=\"AuthorBlock\"><b>David Garfield<\/b>;<br \/>\nGermany<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#63b2f01d5d82acb2b\" href=\"#63b2f01d5d82acb2b\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S16 | Methods for genetic epidemiology<\/div><\/a><\/h4><\/div><div id=\"63b2f01d5d82acb2b\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Lude Franke, Johannes Kettunen<br \/>\nRoom:\u00a0\u00a0 K1<\/p>\n<p class=\"PublishingTitle\">S16.1 Leveraging polygenic signals for insight into disease biology<\/p>\n<p class=\"AuthorBlock\"><b>Hilary Finucane<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S16.2 Genetic instruments in mendelian randomization studies<\/p>\n<p class=\"AuthorBlock\"><b>George Davey-Smith<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S16.3 Large-scale inference of human genetic data<\/p>\n<p class=\"AuthorBlock\"><b>Manuel Rivas<\/b>;<br \/>\nUnited States<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-3224-7 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-3224-7 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-3224-7 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-3224-7 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-3224-7 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-3224-7 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-3224-7 .panel-title a:hover, #accordion-3224-7 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-3224-7 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-3224-7 .panel-title a:hover .fa-fusion-box { background-color: #00529c!important;border-color: #00529c!important;}<\/style><div class=\"accordian fusion-accordian\"><div class=\"panel-group\" id=\"accordion-3224-7\"><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#15ef88178d4353da2\" href=\"#15ef88178d4353da2\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E11 | Genome First Testing in Pediatrics <\/div><\/a><\/h4><\/div><div id=\"15ef88178d4353da2\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Asbj\u00f8rg Stray-Pederson<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PublishingTitle\">E11.1\u00a0 The landscape of genomic alteration across childhood cancers<\/p>\n<p class=\"AuthorBlock\"><b>Natalie J\u00e4ger <\/b>; Germany<\/p>\n<p class=\"PublishingTitle\">E11.2 Rapid NGS for children in intensive care units<\/p>\n<p class=\"AuthorBlock\"><b>Lucy Raymond <\/b>; United Kingdom<\/p>\n<\/div><\/div><\/div><div class=\"fusion-panel panel-default fusion-toggle-no-divider fusion-toggle-boxed-mode\"><div class=\"panel-heading\"><h4 class=\"panel-title toggle\"><a data-toggle=\"collapse\" data-target=\"#6ecaa00fa650e8b87\" href=\"#6ecaa00fa650e8b87\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E12 | Oligogenic inheritance<\/div><\/a><\/h4><\/div><div id=\"6ecaa00fa650e8b87\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Alexandre Reymond<br \/>\nRoom:\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PublishingTitle\">E12.1 Systematic analysis of genetic interactions: from yeast to human<\/p>\n<p class=\"AuthorBlock\"><b>Jolanda Van Leeuwen<\/b>;<br \/>\nSwitzerland<\/p>\n<p class=\"PublishingTitle\">E12.2 Epistasis in Cardiac defects<\/p>\n<p class=\"AuthorBlock\"><b>Bart Loeys<\/b>;<br \/>\nBelgium<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">19:15-20:45 hrs | <\/span><span style=\"color: #ffcc00;\">Corporate Satellites<\/span><\/h4>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/satellite-meetings\/corporate-satellite-meetings#Mo19\">More information<\/a><\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-4 fusion-one-half fusion-column-first 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-3{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-3\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/sunday\"><span class=\"fusion-button-icon-divider button-icon-divider-left\"><i class=\"fa-angle-double-left fas\"><\/i><\/span><span class=\"fusion-button-text fusion-button-text-left\">Sunday<\/span><\/a><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><div  class=\"fusion-layout-column fusion_builder_column fusion_builder_column_1_2 fusion-builder-column-5 fusion-one-half fusion-column-last 1_2\"  style='margin-top:0px;margin-bottom:0px;'>\n\t\t\t\t\t<div class=\"fusion-column-wrapper\" style=\"padding: 0px 0px 0px 0px;background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;\"   data-bg-url=\"\">\n\t\t\t\t\t\t<div class=\"fusion-button-wrapper fusion-alignright\"><style type=\"text\/css\" scoped=\"scoped\">.fusion-button.button-4{width:auto;}<\/style><a class=\"fusion-button button-flat fusion-button-square button-small button-lightgray button-4\" target=\"_self\" href=\"https:\/\/2019.eshg.org\/index.php\/programme\/Tuesday\"><span class=\"fusion-button-text fusion-button-text-right\">Tuesday<\/span><span class=\"fusion-button-icon-divider button-icon-divider-right\"><i class=\"fa-angle-double-right fas\"><\/i><\/span><\/a><\/div><div class=\"fusion-clearfix\"><\/div>\n\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":6,"featured_media":0,"parent":376,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"inline_featured_image":false},"_links":{"self":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/3224"}],"collection":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/comments?post=3224"}],"version-history":[{"count":203,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/3224\/revisions"}],"predecessor-version":[{"id":6723,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/3224\/revisions\/6723"}],"up":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/376"}],"wp:attachment":[{"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/media?parent=3224"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}