  {"id":178535,"date":"2023-06-02T16:00:24","date_gmt":"2023-06-03T02:00:24","guid":{"rendered":"https:\/\/www.hawaii.edu\/news\/?p=178535"},"modified":"2023-06-02T16:00:24","modified_gmt":"2023-06-03T02:00:24","slug":"jabsom-human-genome-project","status":"publish","type":"post","link":"https:\/\/www.hawaii.edu\/news\/2023\/06\/02\/jabsom-human-genome-project\/","title":{"rendered":"<abbr>JABSOM<\/abbr> researchers build on Human Genome Project advances"},"content":{"rendered":"<span class=\"span-reading-time rt-reading-time\" style=\"display: block;\"><span class=\"rt-label rt-prefix\">Reading time: <\/span> <span class=\"rt-time\"> 2<\/span> <span class=\"rt-label rt-postfix\">minutes<\/span><\/span><figure id=\"attachment_145665\" aria-describedby=\"caption-attachment-145665\" style=\"width: 676px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2021\/07\/manoa-jabsom-exterior-sign.jpg\" alt=\"jabsom exterior sign\" width=\"676\" height=\"381\" class=\"size-full wp-image-145665\" srcset=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2021\/07\/manoa-jabsom-exterior-sign.jpg 676w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2021\/07\/manoa-jabsom-exterior-sign-300x169.jpg 300w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2021\/07\/manoa-jabsom-exterior-sign-130x73.jpg 130w\" sizes=\"auto, (max-width: 676px) 100vw, 676px\" \/><figcaption id=\"caption-attachment-145665\" class=\"wp-caption-text\">The John A. Burns School of Medicine<\/figcaption><\/figure>\n<p>The Human Genome Project (<abbr>HGP<\/abbr>), the world\u2019s largest collaborative biological project, was a 13-year effort led by the U.S. government with the goal of generating the first full sequence of the human genome. In 2003, <abbr>HGP<\/abbr> produced a genome sequence that accounted for more than 90&#37; of the human genome and was considered as close to complete as was possible with the technologies of the time. <abbr>HGP<\/abbr> unlocked the door to a vast but unannotated collection of genes. <\/p>\n<figure id=\"attachment_178539\" aria-describedby=\"caption-attachment-178539\" style=\"width: 214px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-burkhart-joshua-214x300.jpg\" alt=\"Joshua Burkhart headshot\" width=\"214\" height=\"300\" class=\"size-medium wp-image-178539\" srcset=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-burkhart-joshua-214x300.jpg 214w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-burkhart-joshua-93x130.jpg 93w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-burkhart-joshua.jpg 250w\" sizes=\"auto, (max-width: 214px) 100vw, 214px\" \/><figcaption id=\"caption-attachment-178539\" class=\"wp-caption-text\">Joshua G. Burkhart<\/figcaption><\/figure>\n<p>In the following decades, via experimental studies, researchers painstakingly curated reannotations in the form of biochemical reaction graphs. Though gene set enrichment analysis considers groups within these annotation graphs, it disregards group dependencies. <\/p>\n<p>Researchers from the University of <span aria-label=\"Hawaii\">Âé¶¹´«Ã½<\/span> at M\u0101noa <a href=\"http:\/\/jabsom.hawaii.edu\">John A. Burns School of Medicine<\/a> (<abbr>JABSOM<\/abbr>) are utilizing data from <abbr>HGP<\/abbr> and making advancements in biochemical reaction network analysis. Their work, <a href=\"https:\/\/www.cell.com\/patterns\/fulltext\/S2666-3899(23)00103-4\">published in the May 22, 2023 issue of <em>Patterns<\/em><\/a>, demonstrates their approach and may help predict the effects of rare or indistinct genetic variations and guide precision medicine (treatment that can use a patient\u2019s own genes to help fight disease or guide specific therapy).<\/p>\n<p>Postdoctoral researcher Joshua G. Burkhart, his supervisor and director Youping Deng, the team in <abbr>JABSOM<\/abbr>\u2019s Bioinformatics Core Facility and other co-authors generated a Graph Neural Network based on the <a href=\"https:\/\/reactome.org\/\">Reactome<\/a> reaction network, a pathway database built using experimental results from prior literature. The Graph Neural Network can find associations, by referencing Reactome connections, that other forms of analysis, such as traditional differential gene expression and hypergeometric enrichment analyses, cannot.<\/p>\n<figure id=\"attachment_178540\" aria-describedby=\"caption-attachment-178540\" style=\"width: 217px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-deng-youping-217x300.png\" alt=\"Youping Deng headshot\" width=\"217\" height=\"300\" class=\"size-medium wp-image-178540\" srcset=\"https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-deng-youping-217x300.png 217w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-deng-youping-94x130.png 94w, https:\/\/www.hawaii.edu\/news\/wp-content\/uploads\/2023\/06\/manoa-jabsom-deng-youping.png 253w\" sizes=\"auto, (max-width: 217px) 100vw, 217px\" \/><figcaption id=\"caption-attachment-178540\" class=\"wp-caption-text\">Youping Deng<\/figcaption><\/figure>\n<p>The researchers show how integrating the information or data from this graph with gene expression values from other studies can be used to identify biochemical reactions associated with tissue-specific diseases.<\/p>\n<p>Burkhart and the team demonstrated their model performs comparably to conventional deep learning artificial intelligence. The qualitative benefit of their approach is that additional gene expression datasets may be used to re-tune certain elements in the process which can reveal specific biochemical reactions and subnetworks, traceable to Reactome.<\/p>\n<p>In the future, similar approaches could enable fruitful re-analyses of prior work.<\/p>\n<p>For more go to the <a href=\"https:\/\/jabsom.hawaii.edu\/jabsom-research-featured-in-patterns\/\"><abbr>JABSOM<\/abbr> website<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p><abbr>JABSOM<\/abbr> researchers are making advancements in biochemical reaction network analysis.<\/p>\n","protected":false},"author":16,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[30],"tags":[165,31,1467,1363,158,9],"class_list":["post-178535","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-research","tag-health","tag-john-a-burns-school-of-medicine","tag-manoa-excellence-in-research","tag-manoa-research","tag-publication","tag-uh-manoa","entry","has-media"],"aioseo_notices":[],"jetpack_featured_media_url":"","_links":{"self":[{"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/posts\/178535","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/users\/16"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/comments?post=178535"}],"version-history":[{"count":10,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/posts\/178535\/revisions"}],"predecessor-version":[{"id":178555,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/posts\/178535\/revisions\/178555"}],"wp:attachment":[{"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/media?parent=178535"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/categories?post=178535"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hawaii.edu\/news\/wp-json\/wp\/v2\/tags?post=178535"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}