{"id":2558,"date":"2018-03-29T10:13:48","date_gmt":"2018-03-29T14:13:48","guid":{"rendered":"https:\/\/med.sites.unc.edu\/genetics\/berglab\/?p=2558"},"modified":"2018-03-29T10:13:48","modified_gmt":"2018-03-29T14:13:48","slug":"molecular-diagnosis-is-a-key-element-in-the-care-of-patients-with-rare-genetic-disorders","status":"publish","type":"post","link":"https:\/\/www.med.unc.edu\/genetics\/berglab\/molecular-diagnosis-is-a-key-element-in-the-care-of-patients-with-rare-genetic-disorders\/","title":{"rendered":"Molecular diagnosis is a key element in the care of patients with rare genetic disorders"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"alignright size-full wp-image-2518\" src=\"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png\" alt=\"\" width=\"290\" height=\"130\" srcset=\"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png 290w, https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo-150x67.png 150w\" sizes=\"auto, (max-width: 290px) 100vw, 290px\" \/>How can we best utilize genome-scale sequencing as a clinical diagnostic test?\u00a0 What are the most effective ways of sifting through many thousands of genetic variants to find the few variants that are clinically relevant for the patient?\u00a0 How should we manage the inevitable \u201cincidental findings\u201d that will be present in every genome-scale sequencing assay?\u00a0 These are some of the questions being asked in the NHGRI-funded U01 project called \u201cNCGENES\u201d led by Dr. Jim Evans in the Department of Genetics.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>How can we best utilize genome-scale sequencing as a clinical diagnostic test?\u00a0 What are the most effective ways of sifting through many thousands of genetic variants to find the few variants that are clinically relevant for the patient?\u00a0 How should we manage the inevitable \u201cincidental findings\u201d that will be present in every genome-scale sequencing assay?\u00a0 &hellip; <a href=\"https:\/\/www.med.unc.edu\/genetics\/berglab\/molecular-diagnosis-is-a-key-element-in-the-care-of-patients-with-rare-genetic-disorders\/\" aria-label=\"Read more about Molecular diagnosis is a key element in the care of patients with rare genetic disorders\">Read more<\/a><\/p>\n","protected":false},"author":3206,"featured_media":2518,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[1],"tags":[],"class_list":["post-2558","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized","odd"],"acf":[],"featured_image":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png","featured_image_medium":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png","featured_image_medium_large":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png","featured_image_large":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo.png","featured_image_thumbnail":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-content\/uploads\/sites\/617\/2018\/03\/ncGenes-logo-150x67.png","featured_image_alt":"","category_details":[{"name":"Uncategorized","link":"https:\/\/www.med.unc.edu\/genetics\/berglab\/category\/uncategorized\/"}],"tag_details":[],"_links_to":[],"_links_to_target":[],"_links":{"self":[{"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/posts\/2558","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/users\/3206"}],"replies":[{"embeddable":true,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/comments?post=2558"}],"version-history":[{"count":0,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/posts\/2558\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/media\/2518"}],"wp:attachment":[{"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/media?parent=2558"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/categories?post=2558"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.med.unc.edu\/genetics\/berglab\/wp-json\/wp\/v2\/tags?post=2558"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}