{"id":852,"date":"2016-10-16T08:02:12","date_gmt":"2016-10-16T07:02:12","guid":{"rendered":"https:\/\/2017.eshg.org\/?page_id=852"},"modified":"2019-06-16T09:05:46","modified_gmt":"2019-06-16T08:05:46","slug":"sunday","status":"publish","type":"page","link":"https:\/\/2019.eshg.org\/index.php\/programme\/sunday\/","title":{"rendered":"Sunday, June 16"},"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\/saturday\"><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\">Saturday<\/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\/monday\"><span class=\"fusion-button-text fusion-button-text-right\">Monday<\/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=\"S01\"><\/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 S01-04<\/span> &amp; <span style=\"color: #e27cbd;\">Educational Sessions E05-E06<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-1 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-1 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(237,180,23,0.41); }.fusion-accordian  #accordion-852-1 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-1 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-1 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-1 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-1 .panel-title a:hover, #accordion-852-1 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-1 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-1 .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-852-1\"><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=\"#d3211745b4c0803c8\" href=\"#d3211745b4c0803c8\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S01 | Updates in psychiatric genetics<\/div><\/a><\/h4><\/div><div id=\"d3211745b4c0803c8\" 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\u00a0 Ramona Moldovan, Enza Maria Valente<br \/>\nRoom:\u00a0\u00a0\u00a0 Hall C<\/p>\n<p class=\"PublishingTitle\">S01.1 Common and rare variants in psychiatric disorders<\/p>\n<p class=\"AuthorBlock\"><b>James Walters<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S01.2 Structural variations in psychiatric disorders<\/p>\n<p class=\"AuthorBlock\"><b>Jonathan Sebat<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S01.3 Updates in clinical applications of psychiatric genetics<\/p>\n<p class=\"AuthorBlock\"><b>Jehannine Austin<\/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=\"#3c97709e93bd3ac45\" href=\"#3c97709e93bd3ac45\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S02 | Finding the strengths that make cancer cells weak<\/div><\/a><\/h4><\/div><div id=\"3c97709e93bd3ac45\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Jose Luis Costa, Hildegunn Vetti<br \/>\nRoom:\u00a0\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PublishingTitle\">S02.1 Tumour supressor function restoration: role in tumour reversion and response to treatment<\/p>\n<p class=\"AuthorBlock\"><b>Scott Lowe<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S02.2 Myc in Cancer: targeting an engine, not a driver<\/p>\n<p class=\"AuthorBlock\"><b>Gerard Evan<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S02.3 Immunotherapy in cancer<\/p>\n<p class=\"AuthorBlock\"><b>Karine Serre<\/b>;<br \/>\nPortugal<\/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=\"#2b9d0a49b419092a4\" href=\"#2b9d0a49b419092a4\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S03 | RNA mis-splicing dynamics, diagnosis and treatment<\/div><\/a><\/h4><\/div><div id=\"2b9d0a49b419092a4\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Siren Berland, Elfride de Baere<br \/>\nRoom:\u00a0\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PublishingTitle\">S03.1 Minor spliceosome and disease<\/p>\n<p class=\"AuthorBlock\"><b>Mikko Frilander<\/b>;<br \/>\nFinland<\/p>\n<p class=\"PublishingTitle\">S03.2 Dynamic mutations and RNA mis-splicing in disease<\/p>\n<p class=\"AuthorBlock\"><b>Maurice Swanson<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S03.3 Restoring splicing defects by antisense oligonucleotide therapy<\/p>\n<p class=\"AuthorBlock\"><b>Rob Collin<\/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=\"#14b5da686455ba57c\" href=\"#14b5da686455ba57c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S04 | An update on kidney research<\/div><\/a><\/h4><\/div><div id=\"14b5da686455ba57c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Jens Michael Hertz, Charlotte von der Lippe<br \/>\nRoom:\u00a0\u00a0\u00a0 K1<\/p>\n<p class=\"PublishingTitle\">S04.1 Polycystic kidney disease and ciliopathies<\/p>\n<p class=\"AuthorBlock\"><b>Carsten Bergmann<\/b>;<br \/>\nGermany<\/p>\n<p class=\"PublishingTitle\">S04.2 New insights in the genetics of hereditary nephrotic syndromes<\/p>\n<p class=\"AuthorBlock\"><b>Corinne Antignac<\/b>;<br \/>\nFrance<\/p>\n<p class=\"PublishingTitle\">S04.3 CRISPR Gene Editing in Human Organoids for Inherited Renal Diseases<\/p>\n<p class=\"AuthorBlock\"><b>Benjamin Freedman<\/b>;<br \/>\nUnited States<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-2 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-2 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-852-2 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-2 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-2 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-2 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-2 .panel-title a:hover, #accordion-852-2 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-2 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-2 .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-852-2\"><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=\"#c8329fcd71d0e9dbf\" href=\"#c8329fcd71d0e9dbf\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E05 | The longer the better? Third generation sequencing technologies<\/div><\/a><\/h4><\/div><div id=\"c8329fcd71d0e9dbf\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chair:\u00a0\u00a0 Zeynep T\u00fcmer<br \/>\nRoom:\u00a0 K2+K3<\/p>\n<p class=\"PublishingTitle\">E05.1 How long do we need? The relative value of emerging sequencing technologies in genomic medicine<\/p>\n<p class=\"AuthorBlock\"><b>Mike Talkowski<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">E05.2 Delineating the structure of chromosome rearrangements using multiple WGS technologies<\/p>\n<p class=\"AuthorBlock\"><b>Anna Lindstrand<\/b>;<br \/>\nSweden<\/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=\"#4077d567735bb687f\" href=\"#4077d567735bb687f\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E06 | Pharmacogenomic testing for personalized medicine<\/div><\/a><\/h4><\/div><div id=\"4077d567735bb687f\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chair:\u00a0\u00a0 Vita Dolzan<br \/>\nRoom:\u00a0 F4+F5<\/p>\n<p class=\"PublishingTitle\">E06.1 Integrating pharmacogenomics into personalized drug treatment<\/p>\n<p class=\"AuthorBlock\"><b>Magnus Ingelman-Sundberg<\/b>;<br \/>\nSweden<\/p>\n<p class=\"PublishingTitle\">E06.2 Pharmacogenomics based personalized drug treatment across world populations<\/p>\n<p class=\"AuthorBlock\"><b>Andrea Gaedigk<\/b>;<br \/>\nUnited States<\/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 A<br \/>\n<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">11:15 &#8211; 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\/#Su11\">More information<\/a><\/p>\n<\/div><div class=\"fusion-menu-anchor\" id=\"C07\"><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">11:15 &#8211; 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 C07-C12<\/span> from submitted abstracts<\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-3 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-3 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(167,209,137,0.79); }.fusion-accordian  #accordion-852-3 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-3 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-3 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-3 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-3 .panel-title a:hover, #accordion-852-3 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-3 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-3 .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-852-3\"><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=\"#89956c997546d2dec\" href=\"#89956c997546d2dec\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C08 | Prenatal Genetics<\/div><\/a><\/h4><\/div><div id=\"89956c997546d2dec\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0\u00a0 Heidi Marjonen, Reiner V. Veitia<br \/>\nRoom:\u00a0\u00a0\u00a0 Hall C<\/p>\n<p class=\"PresentationNumber\">C08.1 Increased risk at first trimester screening: trisomies are not everything, but the risk for an atypical chromosome aberration is low. Experiences from the Swedish Pregnancy Register<\/p>\n<p class=\"AuthorBlock\"><b>Erik Iwarsson<\/b>, P. Conner;<br \/>\nStockholm, Sweden<\/p>\n<p class=\"PresentationNumber\">C08.2 The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a <i>de novo<\/i> mutation<\/p>\n<p class=\"AuthorBlock\"><b>Ummi B. Abdullah*<\/b>, M. Bernkopf, N. Koelling, S.J. McGowan, J. Williams, A.H. N\u00e9meth, H. Stewart, P. Clouston, A.O.M. Wilkie, A. Goriely;<br \/>\nOxford, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C08.3 Validation of simultaneous detection of fetal chromosome aneuploidy and monogenic diseases by a novel noninvasive prenatal testing method: Targeted And Genome-wide simultaneous sequencing (TAGs-seq)<\/p>\n<p class=\"AuthorBlock\"><b>Wang Yicong*<\/b>, S. Zhang, L. Yang, D. Chen, Y. Gao, Y. Zhang, F. Chen;<br \/>\nShenzhen, China<\/p>\n<p class=\"PresentationNumber\">C08.4 Systematic evaluation of prenatal and pediatric diagnostic yields from whole-genome sequencing in 8,954 individuals<\/p>\n<p class=\"AuthorBlock\"><b>Chelsea Lowther*<\/b>, H. Brand, B.B. Currall, J.L. Giordano, V.S. Aggarwal, H.Z. Whang, X. Zhao, D. Lucente, L. Margolin, D.M. Werling, J.Y. An, S. Dong, S.J. Sanders, B. Devlin, K. Gilmore, B. Powell, A. Brandt, A.H. O&#8217;Donnell-Luria, N.J. Lennon, D.B. Goldstein, H.L. Rehm, N.L. Vora, D.G. MacArthur, B. Levy, R. Wapner, M.E. Talkowski;<br \/>\nBoston, United States<\/p>\n<p class=\"PresentationNumber\">C08.5 Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA<\/p>\n<p class=\"AuthorBlock\"><b>Julia C. van Campen*<\/b>, L. Silcock, M. Yau, Y. Daniel, J.W. Ahn, C.M. Ogilvie, K. Mann, E. Oteng-Ntim;<br \/>\nLondon, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C08.6 Prevalence and clinical outcome of mosaicism in uncultured chorionic villus samplings after chromosomal microarray<\/p>\n<p class=\"AuthorBlock\"><b>Ida Charlotte Bay Lund<\/b>, N. Becher, E. Vestergaard, R. Christensen, O. Petersen, E. Steffensen, I. Vogel;<br \/>\nAarhus N., Denmark<\/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=\"#64bb6be487baadcc0\" href=\"#64bb6be487baadcc0\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C09 | Cancer genetics<\/div><\/a><\/h4><\/div><div id=\"64bb6be487baadcc0\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Kristiina Aittom\u00e4ki, Samuel Gebre-Medhin<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PresentationNumber\">C09.1 Germline genetic variation drives the somatic landscape of tumors<\/p>\n<p class=\"AuthorBlock\"><b>Noah Zaitlen<\/b>, S. Mangul, A. Gusev;<br \/>\nLA, United States<\/p>\n<p class=\"PresentationNumber\">C09.2 Germline <i>TP53<\/i> mutations: the predominant genetic cause of adrenocortical carcinoma<\/p>\n<p class=\"AuthorBlock\">Mariette Renaux-Petel, F. Charbonnier, I. Tournier, G. Lienard, J. Bou, E. Kasper, B. Leheup, L. Mansuy, L. Guerrini-Rousseau, L. Brugi\u00e8res, A. Liard-Zmuda, S. Baert-Desurmont, T. Frebourg, <strong>G. Bougeard<\/strong>;<br \/>\nRouen, France<\/p>\n<p class=\"PresentationNumber\">C09.3 Cell free-DNA pinpoints specific clonal expansion at disease progression in solid cancers<\/p>\n<p class=\"AuthorBlock\"><b>Maria Palmieri*<\/b>, M. Baldassarri, F. Fava, A. Fabbiani, E. Gelli, R. Tita, P. Torre, R. Petrioli, T. Hadijstilianou, D. Galimberti, E. Cinotti, M. Mencarelli, A. Pinto, S. Marsili, E. Frullanti, A. Renieri;<br \/>\nSiena, Italy<\/p>\n<p class=\"PresentationNumber\">C09.4 Molecular classification of B-other pediatric B-cell precursor acute lymphoblastic leukemia by DNA methylation and RNA-sequencing<b><\/b><\/p>\n<p class=\"AuthorBlock\">Y. Marincevic-Zuniga, S. Nystedt, S. Nilsson, J. Alml\u00f6f, H. Lilljebj\u00f6rn, T. Fioretos, T. Flaegstad, U. Nor\u00e9n-Nystr\u00f6m, M. Heyman, K. Schmiegelow, J. Kanerva, G. L\u00f6nnerholm, <b>Jessica Nordlund<\/b>;<br \/>\nUppsala, Sweden<\/p>\n<p class=\"PresentationNumber\">C09.5 Polygenic risk scores modify age-dependent breast cancer risk in <i>CHEK2 <\/i>germline mutation carriers<\/p>\n<p class=\"AuthorBlock\"><b>Julika Borde*<\/b>, C. Ernst, K. Weber-Lassalle, D. Niederacher, J. Hauke, J. Horv\u00e1th, N. Weber-Lassalle, A. Meindl, E. Pohl-Rescigno, N. Arnold, A. Lee, C. Engel, B. Wappenschmidt, M. Schmidt, A. Antoniou, R.K. Schmutzler, K. Kuchenb\u00e4cker, E. Hahnen;<br \/>\nCologne, Germany<\/p>\n<p class=\"PresentationNumber\">C09.6 Application of genomics and cognitive technology in precision oncological medicine<\/p>\n<p class=\"AuthorBlock\">Isabel S\u00e1nchez Guiu, D. Cantalapiedra, V. Felipe-Ponce, S. Santill\u00e1n, J. Garc\u00eda, S. Lois, J. Trivi\u00f1o, R. Mi\u00f1ambres, B. Cortina, M. V\u00e1zquez San Antonio, C. Collado Mic\u00f3, V. Fern\u00e1ndez Pedrosa, C. Rodriguez-Antona, O. Calvete, A. Gonzalez Neira, C. Mart\u00ednez-Laperche, I. Bu\u00f1o Bordeh, L. Rodr\u00edguez Rojas, A. Zambrano, J. Escobar, J. Falla, N. Tolaba, P. Bazzoni, M. Montero Alvi, E. de \u00c1lava, D. Azuara, J. Ruffinelli, M. Varela, E. Nadal, C. L\u00e1zaro, C. Moya, <strong>G. Ribas<\/strong><br \/>\nValencia, 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=\"#e89fc501b0c9f712c\" href=\"#e89fc501b0c9f712c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C10 | Cardiovascular disorders<\/div><\/a><\/h4><\/div><div id=\"e89fc501b0c9f712c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Birgitte Diness, Bart Loeys<br \/>\nRoom:\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PresentationNumber\">C10.1 Sequence variants associated with resistant hypertension implicate mechanisms affecting potassium levels<b><\/b><\/p>\n<p class=\"AuthorBlock\"><b>Vinicius Tragante<\/b>, P. Sulem, G. Thorleifsson, M.L. Frigge, J.G. Arthur, F.W. Asselbergs, D.C. Crawford, A.M. Deaton, G.I. Eyjolfsson, S. Gretarsdottir, G.H. Halldorsson, A. Helgadottir, I. Jonsdottir, R.P. Kristjansson, P. Melsted, A. Oddson, I. Olafsson, R. Palsson, O. Sigurdardottir, E. Sigurdsson, J.K. Sigurdsson, G. Sveinbjornsson, G. Masson, D.O. Arnar, G. Thorgeirsson, U. Thorsteinsdottir, D.F. Gudbjartsson, H. Holm, K. Stefansson;<br \/>\nReykjavik, Iceland<\/p>\n<p class=\"PresentationNumber\">C10.2 Multi-omics approach identifies three novel genes for bicuspid aortic valve related aortopathy<\/p>\n<p class=\"AuthorBlock\"><b>Ilse Luyckx*<\/b>, A.A. Kumar, E. Gillis, R.A. Gould, H. Aziz, C.E. Woods, M.A. Seman-Senderos, G. MacCarrick, E. Sparks, A.S. MacCallion, L. Van Laer, H.C. Dietz, A. Verstraeten, B.L. Loeys;<br \/>\nEdegem, Belgium<\/p>\n<p class=\"PresentationNumber\">C10.3 Investigating atherosclerosis progression through single-cell transcriptional profiling of immune cells of the atherosclerotic plaque<\/p>\n<p class=\"AuthorBlock\"><b>Ambra Sartori*<\/b>, K. Thanopoulou, C. Borel, M. Manioudaki, I. Galani, E. Andreakos, E.T. Dermitzakis;<br \/>\nGeneva, Switzerland<\/p>\n<p class=\"PresentationNumber\">C10.4 Metabolomic profiling of ANGPTL3 deficiency<\/p>\n<p class=\"AuthorBlock\"><b>Emmi Tikkanen<\/b>, P. W\u00fcrtz;<br \/>\nHelsinki, Finland<\/p>\n<p class=\"PresentationNumber\">C10.5 The Future is Now: Genomic Studies Must be Globally Representative<\/p>\n<p class=\"AuthorBlock\">G.L. Wojcik, M. Graff, K. Nishimura, R. Tao, J. Haessler, C.R. Gignoux, H.M. Highland, Y.M. Patel, S.A. Bien, S. Buyske, C. Haiman, C. Kooperberg, L. Le Marchand, R.J.F. Loos, T.C. Matise, U. Peters, E.E. Kenny, C.S. Carlson, <b>Kari E. North<\/b>;<br \/>\nChapel Hill, United States<\/p>\n<p class=\"PresentationNumber\">C10.6 Genetics of human plasmalipidome and its link to cardiovascular diseases<\/p>\n<p class=\"AuthorBlock\"><b>Rubina Tabassum<\/b>, J.T. R\u00e4m\u00f6, P. Ripatti, J.T. Koskela, M. Kurki, J. Karjalainen, S. Hassan, J. Nunez-Fontarnau, T.T. Kiiskinen, S. Soderlund, N. Matikainen, M.J. Gerl, M.A. Surma, C. Klose, N.O. Stitziel, H. Laivuori, A.S. Havulinna, S.K. Service, V. Salomaa, M. Pirinen, F. Project, M. Jauhiainen, M.J. Daly, N.B. Freimer, A. Palotie, M. Taskinen, K. Simons, S. Ripatti;<br \/>\nHelsinki, Finland<\/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=\"#711043b1075605a22\" href=\"#711043b1075605a22\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C11 | Statistical and population genetics<\/div><\/a><\/h4><\/div><div id=\"711043b1075605a22\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Eleonora Porcu, Eava Sliz<br \/>\nRoom:\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PresentationNumber\">C11.1 Maximum likelihood method quantifies the overall contribution of gene-environment interaction to complex traits: an application to obesity traits<\/p>\n<p class=\"AuthorBlock\">J. Sulc, N. Mounier, T. Winkler, A. Wood, T. Frayling, I.M. Heid, M.R. Robinson, <b>Zoltan Kutalik<\/b>;<br \/>\nLausanne, Switzerland<\/p>\n<p class=\"PresentationNumber\">C11.2 Leveraging correlated risks to increase power in Genome-Wide Association Studies<\/p>\n<p class=\"AuthorBlock\"><b>Ninon Mounier*<\/b>, P.R.H.J. Timmers, J.F. Wilson, P.K. Joshi, Z. Kutalik;<br \/>\nLausanne, Switzerland<\/p>\n<p class=\"PresentationNumber\">C11.3 One and a half million genome wide-association studies of brain morphometry: a proof-of-concept study<\/p>\n<p class=\"AuthorBlock\">G. Roshchupkin, M.A. Ikram, K. Wittfeld, M. Zwiers, N. Jahanshad, A. Teumer, P. Thompson, B. Franke, H. Grabe, W. Niessen, <b>Hieab H.H. Adams*<\/b>;<br \/>\nRotterdam, Netherlands<\/p>\n<p class=\"PresentationNumber\">C11.4 Genome-wide copy number variant association study reveals several novel disease-associated loci<\/p>\n<p class=\"AuthorBlock\"><b>Maarja Lepamets*<\/b>, K. Lepik, Z. Kutalik, R. M\u00e4gi;<br \/>\nTartu, Estonia<\/p>\n<p class=\"PresentationNumber\">C11.5 Fine-scale population structure and demographic change through time and space in the Netherlands <b><\/b><\/p>\n<p class=\"AuthorBlock\"><b>Ross P. Byrne*<\/b>, W. van Rheenen, L.H. van den Berg, J.H. Veldink, R.L. McLaughlin;<br \/>\nDublin, Ireland<\/p>\n<p class=\"PresentationNumber\">C11.6 The landscape of pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases<\/p>\n<p class=\"AuthorBlock\"><b>Marie Verbanck<\/b>, D.M. Jordan, R. Do;<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=\"#f2dc88d8160df524c\" href=\"#f2dc88d8160df524c\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C12 | Intellectual Disability<\/div><\/a><\/h4><\/div><div id=\"f2dc88d8160df524c\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Ilaria Parenti, Cecilie Rustad<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PresentationNumber\">C12.1 Phenotypic spectrum of novel intellectual disability syndrome due to <i>de novo<\/i> variants in <i>KMT2E<\/i><\/p>\n<p class=\"AuthorBlock\"><b>Anne O&#8217;Donnell-Luria<\/b>, L.S. Pais, V. Faundes, KMT2E Consortium, X. Soto, N. Papalopulu, S. Banka, L.H. Rodan;<br \/>\nBoston, United States<\/p>\n<p class=\"PresentationNumber\">C12.2 <i>CTCF<\/i> variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum<\/p>\n<p class=\"AuthorBlock\"><b>Enrico D.H. Konrad*<\/b>, N. Nardini, M. Blyth, K. Prescott, A.M. Bouman, E.H. Brilstra, A. Caliebe, R. Ibitoye, V.Y. Chang, A. Gupta, G. Le Guyader, R.A. Jamra, K. Platzer, M.C.J. Jongmans, A. Kenney, M. Kempers, R. Pfundt, D. Khattar, O. Kuismin, E. Legius, K.D. Lichtenbelt, T.J. Maarup, M. McEntagart, K. \u00d5unap, M.E. Pierpont, S.L. Santoro, H.M. Schnelle, E. Fassi, D. Young, A. Ziegler, Deciphering Developmental Disorders (DDD) study, A. Gregor, H. Van Esch, C. Zweier;<br \/>\nErlangen, Germany<\/p>\n<p class=\"PresentationNumber\">C12.3 <i>De novo<\/i> variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder <b> <\/b><\/p>\n<p class=\"AuthorBlock\"><b>Lot Snijders Blok*<\/b>, T. Kleefstra, H. Venselaar, S. Maas, H.Y. Kroes, A.M.A. Lachmeijer, K.L.I. van Gassen, H.V. Firth, S. Tomkins, S. Bodek, t. DDD study, K. \u00d5unap, M. Wojcik, C. Cunniff, K. Bergstrom, Z. Powis, S. Tang, D.N. Shinde, C. Au, A.D. Iglesias, K. Izumi, J. Leonard, A.A. Tayyoun, S.W. Baker, M. Tartaglia, M. Niceta, M.L. Dentici, N. Okamoto, N. Miyake, N. Matsumoto, A. Vitobello, L. Faivre, C. Philippe, C. Gilissen, L. van de Wiel, R. Pfundt, P. Deriziotis, H.G. Brunner, S.E. Fisher;<br \/>\nNijmegen, Netherlands<\/p>\n<p class=\"PresentationNumber\">C12.4 De novo variants in <i>MAPK8IP3<\/i> cause intellectual disability with variable brain anomalies<\/p>\n<p class=\"AuthorBlock\"><b>Konrad Platzer<\/b>, H. Sticht, S.L. Edwards, W. Allen, K.M. Angione, M.T. Bonati, C. Brasington, M.T. Cho, L.A. Demmer, T. Falik-Zaccai, C.N. Gamble, Y. Hellenbroich, M. Iascone, F. Kok, S. Mahida, H. Mandel, T. Marquardt, K. McWalter, B. Panis, A. Pepler, H. Pinz, L. Ramos, D.N. Shinde, C. Smith-Hicks, A.P.A. Stegmann, P. St\u00f6be, C.T.R.M. Stumpel, C. Wilson, J.R. Lemke, N. Di Donato, K.G. Miller, R. Abou Jamra;<br \/>\nLeipzig, Germany<\/p>\n<p class=\"PresentationNumber\">C12.5 Defective DNA polymerase a-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly and hypogonadism.<\/p>\n<p class=\"AuthorBlock\"><b>Hilde Van Esch<\/b>, R. Colnaghi, K. Freson, P. Starokadomskyy, A. Zankl, L. Backx, I. Abramowicz, E. Outwin, L. Rohena, C. Faulkner, G. Leong, R. Newbury-Ecob, R. Challis, K. Ounap, P. Witters, E. Seuntjens, K. Devriendt, E. Burstein, K. Low, M. O&#8217;Driscoll;<br \/>\nLEUVEN, Belgium<\/p>\n<p class=\"PresentationNumber\">C12.6 Non-penetrance of a frameshifting <i>SHANK3<\/i> deletion is associated with compensatory mechanisms in both alleles<\/p>\n<p class=\"AuthorBlock\"><b>Bj\u00f8rn Ivar Haukanes<\/b>, T. Nordtveit, G. Houge;<br \/>\nBergen, Norway<\/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=\"#ebc6b2d2ca2af111d\" href=\"#ebc6b2d2ca2af111d\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C13 | Pharmacogenomics<\/div><\/a><\/h4><\/div><div id=\"ebc6b2d2ca2af111d\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0 Stein Bergan, Johan den Dunnen<br \/>\nRoom:\u00a0\u00a0 K1<\/p>\n<p class=\"PresentationNumber\">C13.1 Metabolomic consequences of PCSK9 inhibition compared with statin therapy<\/p>\n<p class=\"AuthorBlock\"><b>Peter W\u00fcrtz<\/b>, S. Ruosaari;<br \/>\nHelsinki, Finland<\/p>\n<p class=\"PresentationNumber\">C13.2 Longitudinal analysis of the gut microbiome reveals dynamic changes in relation to medications &#038; phenotypes<\/p>\n<p class=\"AuthorBlock\"><b>Lianmin Chen*<\/b>, S. Garmaeva, A. Kurilshikov, R. Gacesa, A. Vich Vila, R. Weersma, C. Wijmenga, A. Zhernakova, J. Fu;<br \/>\nGroningen, Netherlands<\/p>\n<p class=\"PresentationNumber\">C13.3 Lifelong genetically lowered sclerostin and risk of cardiovascular disease<\/p>\n<p class=\"AuthorBlock\"><b>Jonas Bovijn*<\/b>, K. Krebs, C. Chen, R. Boxall, J.C. Censin, T. Ferreira, S.L. Pulit, C.A. Glastonbury, S. Laber, I.Y. Millwood, K. Lin, L. Li, Z. Chen, L. Milani, R.G. Walters, R. M\u00e4gi, B.M. Neale, C.M. Lindgren, M.V. Holmes;<br \/>\nOxford, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C13.4 Advanced renal cancer patients with tumor <i>KDM5C<\/i> mutations show improved response to anti-angiogenic therapy<\/p>\n<p class=\"AuthorBlock\"><b>Maria Santos*<\/b>, J. Roldan-Romero, J. Lanillos, F. Garc\u00eda, B. Calsina, M. Pulgar\u00edn, \u00c1. Mart\u00ednez, R. Let\u00f3n, C. Montero-Conde, A. Casc\u00f3n, M. Robledo, B. Beuselinck, J. Garc\u00eda-Donas, C. Rodr\u00edguez-Antona;<br \/>\nMadrid, Spain<\/p>\n<p class=\"PresentationNumber\">C13.5 Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels<\/p>\n<p class=\"AuthorBlock\"><b>Henrike O. Heyne*<\/b>, S. Iqbal, D. Palmer, K. Johannesen, J. Lemke, H. Lerche, P. May, R.S. Moeller, E. Perez, U. Scholl, S. Syrbe, A.J. Campbell, D. Lal, H. Wang, M.J. Daly;<br \/>\nCambridge, United States<\/p>\n<p class=\"PresentationNumber\">C13.6 <i>Taurine supplementation as a potential therapy for <\/i>progressive retinal degeneration due to biallelic pathogenic variants in the Taurine transporter <i>SLC6A6<\/i><\/p>\n<p class=\"AuthorBlock\"><b>Emmanuelle Ranza<\/b>, M. Ansar, M. Shetty, S.A. Paracha, M.T. Sarwar, I. Kern, O. Farooq, C.J. Pournaras, A. Malcles, F.A. Santoni, P. Makrythanasis, J. Ahmed, K. Henry, S.E. Antonarakis;<br \/>\nGeneva, Switzerland<\/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=\"#f8ec12950f66cc4cc\" href=\"#f8ec12950f66cc4cc\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C14 | Genetic counselling developments<\/div><\/a><\/h4><\/div><div id=\"f8ec12950f66cc4cc\" 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\u00a0 Kinga Hadzsiev, Rhona Macleod<br \/>\nRoom:\u00a0\u00a0\u00a0 H2<\/p>\n<p class=\"PresentationNumber\">C14.1 Effect of genetic counseling on adherence to psychotropic medication in people with serious mental illness<\/p>\n<p class=\"AuthorBlock\"><b>Jehannine Austin<\/b>, E. Morris, R. Batallones, P. Carrion, C. Slomp, J. Ryan, A. Albert;<br \/>\nVancouver, Canada<\/p>\n<p class=\"PresentationNumber\">C14.2 Psychiatric Genetic Counselling: Efficacy of training and implications for practice<\/p>\n<p class=\"AuthorBlock\"><b>Kevin A. McGhee<\/b>, M. Watson, A. Inglis, E. Morris, R. Moldovan, J.C. Austin;<br \/>\nPOOLE, United Kingdom<\/p>\n<p class=\"PresentationNumber\">C14.3 Large scale group genetic counselling: a novel service delivery model<\/p>\n<p class=\"AuthorBlock\">Z. Lohn, <b>Jennifer Nuk<\/b>, A. Fok, M. Richardson, S. Mung, J. Yuson, M. Jevon, K. Schrader, S. Sun;<br \/>\nVancouver, Canada<\/p>\n<p class=\"PresentationNumber\">C14.4 Genetic counselling experience in Iceland of web-based return of BRCA2 research<i> <\/i>results<\/p>\n<p class=\"AuthorBlock\"><b>Vigd\u00eds Stefansdottir<\/b>, E.T. Thorolfsdottir, B.B. Gunnarsdottir, A. Ulfarsdottir, T. Jonsdottir, H.B. Hognason, J.J. Jonsson;<br \/>\nReykjavik, Iceland<\/p>\n<p class=\"PresentationNumber\">C14.5 The making of the BRCA-chatbot &#8211; A patient centered digital counselling tool to support individuals undergoing genetic testing for hereditary breast and ovarian cancer<\/p>\n<p class=\"AuthorBlock\"><b>Elen Siglen<\/b>, H. H\u00f8berg-Vetti, M. Tveit Haavind, V. Steen, A. Hamang, S. Tronsli Nerg\u00e5rd, N. Str\u00f8msvik, T. Akselberg Hatlebrekke, H. Skarb\u00f8, C. Bjorvatn;<br \/>\nBergen, Norway<\/p>\n<p class=\"PresentationNumber\">C14.6 myKinMatters intervention: developing an online intervention to support patients in communicating relevant health information to at-risk relatives<\/p>\n<p class=\"AuthorBlock\"><b>Lisa M. Ballard<\/b>, A. Fenwick, A.M. Lucassen;<br \/>\nSouthampton, 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=\"#0ab752edb25adaa25\" href=\"#0ab752edb25adaa25\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">C15 | Best Posters 1<\/div><\/a><\/h4><\/div><div id=\"0ab752edb25adaa25\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p class=\"LocationName\">Chairs:\u00a0\u00a0 Joris Veltman, Alexandre Reymond<br \/>Room:\u00a0\u00a0\u00a0 Live Stream Area (Exhibition Hall)<\/p>\n<p class=\"PublishingTitle\">Gastrointestinal dysfunction in autism spectrum disorder: New insights from the Foxp1+\/-mouse with altered gut motility and achalasia<\/p>\n<p class=\"AuthorBlock\">H. Fr\u00f6hlich, M. Kollmeyer, M. Stuhlinger, V. Linz, D. Groneberg, A. Reigl, E. Zizer, A. Friebe, B. Niesler, <b>G. Rappold<\/b><br \/>Heidelberg, Germany<\/p>\n<p class=\"PublishingTitle\">Identification and characterization of microRNA-149, a candidate for orofacial clefting.<\/p>\n<p class=\"AuthorBlock\"><b>Ronja Hollstein*<\/b>, L.G. St\u00fcssel, M. Laugsch, F. Haeberlein, L.M. Hochfeld, J. Welzenbach, J. Schr\u00f6der, F. Thieme, A. Heimbach, T. Hess, J. Gehlen, S. Heilmann-Heimbach, E. Mangold, A. Rada-Iglesias, B. Odermatt, K.U. Ludwig;<br \/>Bonn, Germany<\/p>\n<p class=\"PublishingTitle\">Increasing fetal hemoglobin by genetic editing the cells of sickle cell disease patients<\/p>\n<p class=\"AuthorBlock\">S. Jalil, Y. Novik, R. Maldonado, D. Balboa, T. Otonkoski, U. Wartiovaara-Kautto, <b>Kirmo Wartiovaara<\/b>;<br \/>Helsinki, Finland<\/p>\n<p class=\"PublishingTitle\">Anorexia nervosa genome-wide association study identifies eight loci and implicates psychiatric and metabolic origins<\/p>\n<p class=\"AuthorBlock\"><b>Christopher H\u00fcbel*<\/b>, H.J. Watson, Z. Yilmaz, Eating Disorders Working Group Psychiatric Genomics Consortium, M. Land\u00e9n, N.G. Martin, P. Mortensen, P.F. Sullivan, G. Breen, C.M. Bulik;<br \/>Stockholm, Sweden<\/p>\n<p class=\"PublishingTitle\">Analysis of DNA tandem repeats in ALS from Whole Genome Sequencing : Role of FRA10Ac1 gene repeat expansion in ALS<\/p>\n<p class=\"AuthorBlock\"><b>Lucia Corrado<\/b>, L. Genovese, E. Mangano, R. Croce, A. Di Pierro, F. Geraci, R. Bordoni, R. D&#8217;Aurizio, N. Barizzone, F. De Marchi, L. Mazzini, G. De Bellis, G. Manzini, M. Severgnini, M. Pellegrini, S. D&#8217;Alfonso;<br \/>NOvara, Italy<\/p>\n<p class=\"PublishingTitle\">Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome<\/p>\n<p class=\"AuthorBlock\">C. K. Bauer, <strong>P. E. Schneeberger*<\/strong>, F. Kort\u00fcm, J. Altm\u00fcller, F. Santos-Simarro, L. Baker, J. Keller-Ramey, S. M. White, P. M. Campeau, K. W. Gripp, K. Kutsche;<b><br \/><\/b>Hamburg, Germany<\/p>\n<p class=\"PublishingTitle\">Variants with reduced variant fractions in NGS-based germline diagnostics for hereditary breast and ovarian cancer<\/p>\n<p class=\"AuthorBlock\"><b>Mirjam Larsen<\/b>, K. Keupp, K. Weber-Lassalle, L. B\u00fclow, B. Bluemcke, B. Versmold, A. Waha, J. Driesen, A. Baasner, C. E\u00dfer, B. Sch\u00f6mig-Markiefka, B. Wappenschmidt, R. Schmutzler, E. Hahnen, E. Pohl-Rescigno;<br \/>Cologne, Germany<\/p>\n<p class=\"PublishingTitle\">LOY Associated Transcriptional Effect (LATE) in immune cells measured by single cell RNAseq and bulk RNAseq<\/p>\n<p class=\"AuthorBlock\"><b>Jonas Mattisson<\/b>, J. Halvardson, B. Torabi Moghadam, M. Danielsson, H. Davies, J. Dumanski, L.A. Forsberg;<br \/>Uppsala, Sweden<\/p>\n<p class=\"PublishingTitle\">Gabriella Miller Kids First Data Resource Center: Harmonizing genomic and clinical information to support childhood cancer and structural birth defect research<\/p>\n<p class=\"AuthorBlock\"><b>Yiran Guo<\/b>, A.P. Heath, P. Raman, Y. Zhu, J. Lilly, D.M. Taylor, P.B. Storm, A.J. Waanders, V. Ferretti, M. Mattioni, B. Davis-Dusenbery, Z.L. Flamig, R.L. Grossman, S.L. Volchenboum, S. Mueller, J. Nazarian, N. Vasilevsky, M. Haendel, A. Resnick;<br \/>Phiadelphia, United States<\/p>\n<p class=\"PublishingTitle\">Genetic dysregulation of gene expression and splicing during a ten-year period of human aging<\/p>\n<p class=\"AuthorBlock\"><b>Brunilda Balliu*<\/b>, M. Durrant, O. de Goede, N. Abell, X. Li, B. Liu, M. Gloudemans, N. Cook, K. Smith, M. Pala, F. Cucca, D. Schlessinger, S. Jaiswal, C. Sabatti, L. Lind, E. Ingelsson, S.B. Montgomery;<br \/>Los Angeles, United States<\/p>\n<p class=\"PublishingTitle\">An integrated chromatin accessibility and transcriptome landscape of human pre- and post-implantation embryos<\/p>\n<p class=\"AuthorBlock\"><b>Zhouchun Shang<\/b>, L. Liu, L. Leng, C. Liu, Y. Yuan, X. Dai, Q. Wang, S. Wang, F. Chen;<br \/>Shenzhen, China<\/p>\n<p class=\"PublishingTitle\">Disease interpretation of regulatory variants with GeneHancer<\/p>\n<p class=\"AuthorBlock\"><b>Simon Fishilevich*<\/b>, R. Barshir, M. Twik, I. Bahir, T. Iny Stein, M. Safran, D. Lancet;<br \/>Rehovot, Israel<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-menu-anchor\" id=\"W05\"><\/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 &#8211; 16:30 hrs | <span style=\"color: #bec1c4;\">Workshops W05-W11<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-4 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-4 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:#cccccc; }.fusion-accordian  #accordion-852-4 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-4 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-4 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-4 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-4 .panel-title a:hover, #accordion-852-4 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-4 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-4 .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-852-4\"><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=\"#798eca879f1c79b20\" href=\"#798eca879f1c79b20\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W05 | Exome sequencing and variant interpretation<\/div><\/a><\/h4><\/div><div id=\"798eca879f1c79b20\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 Hall C<\/p>\n<p><em>Workshop Organiser:\u00a0 Christian Gilissen, Kaitlin Samocha<br \/>\n<\/em><\/p>\n<p><strong>About the workshop:<\/strong><\/p>\n<p>Although exome sequencing is now routinely available both for research and clinical purposes, the interpretation of identified variants remains a major challenge. In this workshop we will address the available public bioinformatics resources that can help in interpreting variants from exome sequencing, and illustrate their importance by real-life examples.<\/p>\n<p><strong>Programme overview:<\/strong><\/p>\n<p>15:00-15:05<br \/>\n<strong>Welcome and opening remarks<\/strong><br \/>\n<em>Christian Gilissen<\/em><\/p>\n<p>15:05-15:30<br \/>\n<strong>Using gnomAD for variant interpretation<\/strong><br \/>\n<em>Kaitlin Samocha<\/em><strong><br \/>\n<\/strong><\/p>\n<p>15:30-15:50<br \/>\n<strong>Predicting the effect of splicesite variants<\/strong><br \/>\n<em>Jeremy McRae<\/em><\/p>\n<p>15:50-16:10<br \/>\n<strong>Variant Interpretation using protein structure and interactions<br \/>\n<\/strong><em>James Stephenson<\/em><\/p>\n<p>16:10-16:30<br \/>\n<strong>Analysis of CNVs from exome data<br \/>\n<\/strong><em>Rolph Pfundt<\/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=\"#f9ec54175f312bd24\" href=\"#f9ec54175f312bd24\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W06 | Dysmorphology I<\/div><\/a><\/h4><\/div><div id=\"f9ec54175f312bd24\" 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 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=\"#c678ab8f52507cc6b\" href=\"#c678ab8f52507cc6b\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W07 | UCSC Genome Browser<\/div><\/a><\/h4><\/div><div id=\"c678ab8f52507cc6b\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: F1+F2+F3<\/p>\n<p><em>Workshop Organiser:\u00a0 Robert Kuhn<br \/>\n<\/em><\/p>\n<p><strong>About the workshop:<\/strong><\/p>\n<p>The UCSC Genome Browser continues to expand its feature set and data. The workshop will describe our representation of pre-computed CRISPR guides (including off-target locations), the Genome Aggregation Database (gnomAD) and new data formats:<\/p>\n<p>1) interact, for display of physical interaction data (e.g., 5C, Hi-C) or conceptual relationships (e.g., enhancers)<br \/>\n2) barChart, for aggregating data from multiple experiments into a simple, single display<\/p>\n<p>The new Track Collection feature allows multiple RNA-seq datasets to be configured together, to be superimposed on a single axis and to be subtracted on the fly to show the difference between two datasets.<\/p>\n<p><strong>Learning outcome:<\/strong><\/p>\n<p>Delegates will be directed to Shared Sessions they can quickly load on their laptops. Connecting with these pre-configured views of the new CRISPR and gnomAD data will enable live dynamic interaction with the data during the meeting, and enable the easy return to these resources later. Participants will find and interpret pre-computed CRISPR data across the entire exome, including links to all off-site targets with up to 4 bases of mismatch to the intended guide.<\/p>\n<p>Online data examples of the new interact and barChart formats will serve as raw matereial for delegates to modify input and use their own changes to explore data formats in real time. Participants will use the new Track Collection functionality and to carry out operations on RNA-seq data, including co-display on a single axis and subtraction.<\/p>\n<p><strong>Interactive elements:<\/strong><\/p>\n<p>Delegates will actively load data into the Genome Browser and save the resulting sessions in an archive for easy future retrieval. Delegates will modify custom track data in the interact and barChart formats\u00a0and observe the results in uploaded Browser tracks. Delegates will save sessions of their modified data and use their saved sessions to share with the rest of the audience. Collectively, we will ascertain the functionof the various dasta fields.<\/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=\"#867b883c7b10906cd\" href=\"#867b883c7b10906cd\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W08 | Investigating genotype-phenotype data using the GWAS Catalog<\/div><\/a><\/h4><\/div><div id=\"867b883c7b10906cd\" 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 Laura Harris, Daniel Suveges<\/em><\/p>\n<p><strong>About the workshop:<\/strong><\/p>\n<p>Our workshop will cover an introduction to the GWAS Catalog,\u00a0including the scientific background, the web-based\u00a0search tools, and programmatic access via our RESTful API.<\/p>\n<p>We will\u00a0include hands-on demonstrations covering different methods for accessing GWAS\u00a0Catalog data, focusing on the most common use-cases. Participants who bring their own laptops will have a chance to try out the GWAS Catalog online; those wishing to try out the API during the session must have a modern browser such as Chrome or Firefox installed, and may find it useful to have a command line interface (e.g. Unix terminal).<\/p>\n<p>Following the\u00a0session, attendees will (1)\u00a0understand the type and scope of\u00a0data contained in the GWAS Catalog (2)\u00a0be able to use web-based tools to explore and\u00a0visualise GWAS Catalog data\u00a0(3)\u00a0understand how to perform programmatic queries to search and access GWAS Catalog data.<\/p>\n<p>There will be ample time to ask questions of the GWAS Catalog team.<\/p>\n<p><strong>Workshop Speakers:<\/strong><\/p>\n<p><em>Laura Harris, Scientific Curator<br \/>\n<\/em><em>Daniel Suveges, Bioinformatician<br \/>\n<\/em><em>Jackie MacArthur, Project Lead<br \/>\n<\/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=\"#536ee7fe036a04e8e\" href=\"#536ee7fe036a04e8e\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W09 | A Tribute to Seymour Kessler: Deliberating Psychotherapeutic Work in Genetic Counseling<\/div><\/a><\/h4><\/div><div id=\"536ee7fe036a04e8e\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room: G2+G3<\/p>\n<p><a href=\"https:\/\/2019.eshg.org\/index.php\/programme\/empagtrack\/\"><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\" \/><\/a><\/p>\n<p><em>Workshop Organiser:\u00a0 Rhona Macleod<br \/>\n<\/em><\/p>\n<p><strong>About the workshop:<\/strong><em><strong><br \/>\n<\/strong><\/em><\/p>\n<p>This workshop will explore psychotherapeutic elements in genetic counseling casework that highlight Dr. Seymour Kessler\u2019s clinical scholarship. Attendees will learn about addressing patient suffering; distinctions between shame and guilt, when to execute personal scrutiny, transference and counter-transference, and family transitions. We will discuss the role of the genetic counselor regarding end of life options for those affected with neurodegenerative disease.<\/p>\n<p>Attendees are asked to bring their genetic counseling cases to the workshop, with two slides that include: a pedigree and information key to the discussion. Cases that illustrate concepts in Dr. Kessler\u2019s writings that address meeting the needs of our clients will be selected for discussion. Delegates will be asked to present the case for deliberation among the workshop attendees, followed by commentary from the speakers.<\/p>\n<p>We invite attendees wishing to present a case to contact the workshop organisers:<br \/>\n<a href=\"mailto:bbiesecker@rti.org\">bbiesecker@rti.org<\/a>; <a href=\"mailto:A.Tibben@lumc.nl\">A.Tibben@lumc.nl<\/a><\/p>\n<p>We hope this will be an opportunity to reflect on the impact of Dr Kessler\u2019s\u00a0 writing and psychological insights on our way of working with families.<\/p>\n<p><strong>Workshop Speakers:\u00a0<\/strong><\/p>\n<p><em>Barbara Biesecker, PhD, MS, Genetic Counselor and Distinguished Fellow, RTI International<br \/>\nAad Tibben, PhD, Psychotherapist and Professor emeritus, University of Leiden<\/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=\"#b32843716df859af1\" href=\"#b32843716df859af1\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W10 | Genomics Quiz<\/div><\/a><\/h4><\/div><div id=\"b32843716df859af1\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 K1<\/p>\n<p><em>Workshop Organisers:\u00a0 Robert Hofstra, Julie McGaughran<br \/>\n<\/em><em>Moderation: Roy Sheppard<\/em><\/p>\n<p>In an exciting new experiment, 2 teams as well as the audience will test their knowledge of the ESHG, genetics and Gothenburg, using multiple choice questions, performance acts and audience participation, in an hopefully entertaining and educative quiz.<\/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=\"#32109a74be8e49cc0\" href=\"#32109a74be8e49cc0\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">W11 | European funding schemes for researchers<\/div><\/a><\/h4><\/div><div id=\"32109a74be8e49cc0\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Room:\u00a0 H2<\/p>\n<p><em>Workshop Organisers:\u00a0 Alexandre Reymond, Elfride De Baere<\/em><\/p>\n<p><strong>Programme Overview:<\/strong><\/p>\n<p>15:00-15:25<br \/>\n<strong>ERC Starting Grant<\/strong><br \/>\nLude Franke, The Netherlands<\/p>\n<p>15:25-15:50<br \/>\n<strong>ERC Consolidator Grant<\/strong><br \/>\nBart Loeys, Belgium<\/p>\n<p>15:50-16:15<br \/>\n<strong>ERC from\u00a0the perspective of LS panels<br \/>\n<\/strong>Konstantina Topouridou, Belgium<strong><br \/>\n<\/strong><\/p>\n<p>16:15-16:30<br \/>\n<strong>Q&amp;A Session<\/strong><\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-text\"><h4><span style=\"color: #000000;\">15:00 &#8211; 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\/#Su15\">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=\"S05\"><\/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 B<br \/>\n<\/span><\/h4>\n<\/div><div class=\"fusion-text\"><h4>17:45 &#8211; 19:15 hrs | <span style=\"color: #edb417;\">Concurrent Symposia S05-08<\/span> &amp; <span style=\"color: #e27cbd;\">Educational Sessions E08-E09<\/span><\/h4>\n<\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-5 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-5 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(237,180,23,0.41); }.fusion-accordian  #accordion-852-5 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-5 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-5 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-5 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-5 .panel-title a:hover, #accordion-852-5 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-5 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-5 .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-852-5\"><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=\"#cafb668508e89af0b\" href=\"#cafb668508e89af0b\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S05 | Genome editing<\/div><\/a><\/h4><\/div><div id=\"cafb668508e89af0b\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Malte Spielmann, Kirmo Wartiovaara<br \/>\nRoom:\u00a0\u00a0 Hall C<\/p>\n<p class=\"PublishingTitle\">S05.1 CRISPR single-cell sequencing: Toward functional biology in high throughput<\/p>\n<p class=\"AuthorBlock\"><b>Christoph Bock<\/b>;<br \/>\nAustria<\/p>\n<p class=\"PublishingTitle\">S05.2 Therapeutic applications of genome editing to prevent diseases<\/p>\n<p class=\"AuthorBlock\"><b>Kiran Musunuru<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S05.3 Advances in therapeutic CRISPR\/Cas9 genome editing<\/p>\n<p class=\"AuthorBlock\"><b>Gerald Schwank<\/b>;<br \/>\nSwitzerland<\/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=\"#5bf47f0021574c090\" href=\"#5bf47f0021574c090\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S06 | Thank you for the Variant (a personal utility tale)<\/div><\/a><\/h4><\/div><div id=\"5bf47f0021574c090\" 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 Charlotta Ingvoldstad Malmgren, Celine Lewis<br \/>\nRoom:\u00a0\u00a0 F1+F2+F3<\/p>\n<p class=\"PublishingTitle\">S06.1 Current understanding of psychiatric genetics research and services amongst mental health service users and their families<\/p>\n<p class=\"AuthorBlock\"><b>David Crepaz-Keay<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S06.2 Genetic profiling in primary care: triggers and impact on risk-reducing behaviour<\/p>\n<p class=\"AuthorBlock\"><b>Nadeem Qureshi<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">S06.3 What will this genetic result mean for my baby?<\/p>\n<p class=\"AuthorBlock\"><b>Lidewij Henneman<\/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=\"#f86cbecb01db964f8\" href=\"#f86cbecb01db964f8\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S07 | Polygenic risk scores coming of age<\/div><\/a><\/h4><\/div><div id=\"f86cbecb01db964f8\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Anders B\u00f8rglum, Franke Lude<br \/>\nRoom:\u00a0\u00a0 G2+G3<\/p>\n<p class=\"PublishingTitle\">S07.1 Polygenic risk scores in genetic epidemiology<\/p>\n<p class=\"AuthorBlock\"><b>Krista Fischer<\/b>;<br \/>\nEstonia<\/p>\n<p class=\"PublishingTitle\">S07.2 Polygenic risks and their impact on behavior<\/p>\n<p class=\"AuthorBlock\"><b>Samuli Ripatti<\/b>;<br \/>\nFinland<\/p>\n<p class=\"PublishingTitle\">S07.3 Polygenic risk scores in prostate cancer<\/p>\n<p class=\"AuthorBlock\"><b>Rosalind Eeles<\/b>;<br \/>\nUnited 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=\"#59c4331ea97c447d6\" href=\"#59c4331ea97c447d6\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">S08 | Beware of the transposons<\/div><\/a><\/h4><\/div><div id=\"59c4331ea97c447d6\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0\u00a0 Maris Laan, Daniel Nilsson<br \/>\nRoom:\u00a0\u00a0\u00a0 K1<\/p>\n<p class=\"PublishingTitle\">S08.1 YY1: an enduring repressor of L1 retrotransposition during human neurodevelopment<\/p>\n<p class=\"AuthorBlock\"><b>Geoffrey J. Faulkner<\/b>;<br \/>\nAustralia<\/p>\n<p class=\"PublishingTitle\">S08.2 Alu elements and cellular RNA metabolism<\/p>\n<p class=\"AuthorBlock\"><b>Lynne E. Maquat<\/b>;<br \/>\nUnited States<\/p>\n<p class=\"PublishingTitle\">S08.3 Insertion variants at disease risk loci<\/p>\n<p class=\"AuthorBlock\"><b>Kathleen H. Burns<\/b>;<br \/>\nUnited States<\/p>\n<\/div><\/div><\/div><\/div><\/div><style type=\"text\/css\" scoped=\"scoped\">#accordion-852-6 .fusion-panel:hover{ background-color: #f9f9f9 } #accordion-852-6 .fusion-panel { border-color:#cccccc; border-width:1px; background-color:rgba(226,124,189,0.39); }.fusion-accordian  #accordion-852-6 .panel-title a .fa-fusion-box{ color: #ffffff;}.fusion-accordian  #accordion-852-6 .panel-title a .fa-fusion-box:before{ font-size: 13px; width: 13px;}.fusion-accordian  #accordion-852-6 .panel-title a{font-size:21px;}.fusion-accordian  #accordion-852-6 .fa-fusion-box { background-color: #333333;border-color: #333333;}.fusion-accordian  #accordion-852-6 .panel-title a:hover, #accordion-852-6 .fusion-toggle-boxed-mode:hover .panel-title a { color: #00529c;}.fusion-accordian  #accordion-852-6 .panel-title .active .fa-fusion-box,.fusion-accordian  #accordion-852-6 .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-852-6\"><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=\"#6f59736646c85b9b6\" href=\"#6f59736646c85b9b6\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E07 | Single-cell transcriptomics in the brain<\/div><\/a><\/h4><\/div><div id=\"6f59736646c85b9b6\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Joris Vermeesch<br \/>\nRoom:\u00a0\u00a0 K2+K3<\/p>\n<p class=\"PublishingTitle\">E07.1 Single cell heterogeneity in human brain and its relation to neurodegenerative diseases<\/p>\n<p class=\"AuthorBlock\"><b>Raheleh Rahbari<\/b>;<br \/>\nUnited Kingdom<\/p>\n<p class=\"PublishingTitle\">E07.2 Single cell RNA sequencing in psychiatric disorders<\/p>\n<p class=\"AuthorBlock\"><b>Jens Hjerling Leffler<\/b>;<br \/>\nSweden<\/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=\"#9bf499d94b7e23997\" href=\"#9bf499d94b7e23997\"><div class=\"fusion-toggle-icon-wrapper\"><i class=\"fa-fusion-box\"><\/i><\/div><div class=\"fusion-toggle-heading\">E08 | Chromosome Y loss and the ageing genome<\/div><\/a><\/h4><\/div><div id=\"9bf499d94b7e23997\" class=\"panel-collapse collapse \"><div class=\"panel-body toggle-content fusion-clearfix\">\n<p>Chairs:\u00a0 Yasemin Alanay<br \/>\nRoom:\u00a0\u00a0 F4+F5<\/p>\n<p class=\"PublishingTitle\">E08.1 Mosaic loss of chromosome Y (LOY) in leukocytes: from discovery to impact<\/p>\n<p class=\"AuthorBlock\"><b>Lars Forsberg<\/b>;<br \/>\nSweden<\/p>\n<p class=\"PublishingTitle\">E08.2 Mosaic chromosome Y loss, ageing and cancer risk<\/p>\n<p class=\"AuthorBlock\"><b>Mitchell Machiela<\/b>;<br \/>\nUnited States<\/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\/#Su19\">More information<\/a><\/p>\n<\/div><div class=\"fusion-text\"><h4>19:30 &#8211; 20:30 hrs | <span style=\"color: #80c8f3;\">ESHG Membership Meeting<\/span><\/h4>\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\/saturday\"><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\">Saturday<\/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\/monday\"><span class=\"fusion-button-text fusion-button-text-right\">Monday<\/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":2,"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\/852"}],"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\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/comments?post=852"}],"version-history":[{"count":380,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/852\/revisions"}],"predecessor-version":[{"id":6732,"href":"https:\/\/2019.eshg.org\/index.php\/wp-json\/wp\/v2\/pages\/852\/revisions\/6732"}],"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=852"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}