{"id":901,"date":"2025-04-08T16:12:06","date_gmt":"2025-04-08T21:12:06","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=901"},"modified":"2025-05-15T11:03:11","modified_gmt":"2025-05-15T16:03:11","slug":"research","status":"publish","type":"page","link":"https:\/\/wp.uthscsa.edu\/chromosome-18\/research\/","title":{"rendered":"Research"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text css=&#8221;&#8221;]<\/p>\n<h3><strong><u>Determine the effects of chromosome 18 gene deletions or duplications.<\/u><\/strong><\/h3>\n<p>There are two sets of maps. The first set (Scientific Maps) are more scientifically oriented with gene dosage information for every gene on chromosome 18.<\/p>\n<p>The second set is (Clinical Maps) are medically-oriented with information for only those few genes that have a clinical impact when deleted or duplicated.<\/p>\n<p>The genes that are not included in this application have data showing that they do not play any role when deleted or duplicated. To date (2025), of the 263 genes on chromosome 18, only 18 genes have an unknown role when deleted and 99 have an unknown role when duplicated. At this point in time, not every characteristic of someone with a chromosome 18 condition can be explained by these data.[\/vc_column_text]\n            <div class=\"callout  \" >\n                    <p><strong><u>Important Note:<\/u><\/strong><\/p>\n<p>Data from the medical literature and other sources are monitored daily. Therefore. the gene classifications and information in the maps can and will change over time.<\/p>\n<\/div>[vc_column_text css=&#8221;&#8221;]<\/p>\n<h2>Scientific Maps<\/h2>\n<p>These data are displayed as custom tracks on the University of California Genome Browser. Every gene on chromosome 18 is depicted at its location on the chromosome and classified with regard to the likelihood of being dosage sensitive. There is one track for the effects of hemizygosity (gene deletion) and one for suprazygosity (gene duplication). By clicking on the gene in the browser track the user is taken to the details page with supporting data.<\/p>\n<ul>\n<li><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research\/gene-dosage-track-legend\/\">Gene Dosage Maps Legend<\/a><\/li>\n<li><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&amp;lastVirtModeType=default&amp;lastVirtModeExtraState=&amp;virtModeType=default&amp;virtMode=0&amp;nonVirtPosition=&amp;position=chr18%3A1%2D78077248&amp;hgsid=2509154199_sKdp7hHWUkTOs1vvOnIZ81syCwGw\">Gene Dosage Duplications Map at Genome Browser<\/a><\/li>\n<li><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&amp;lastVirtModeType=default&amp;lastVirtModeExtraState=&amp;virtModeType=default&amp;virtMode=0&amp;nonVirtPosition=&amp;position=chr18%3A1%2D78077248&amp;hgsid=2509154479_efGOAyA1J9VulrsavKNfSZYOgGFD\">Gene Dosage Deletions Map at Genome Browser<\/a><\/li>\n<\/ul>\n<h2>Clinical Maps<\/h2>\n<p>There are two types of clinical dosage maps. The first includes only those few <u>genes<\/u> shown to have an effect when deleted or duplicated. The second indicates <u>regions <\/u>of the chromosome associated with specific clinical effects for which the causative gene(s) has yet to be identified. They do not include data on genes that have no effect or are merely risk factors for disease.<\/p>\n<ul>\n<li><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-dosage-map-instructions\/\">Clinical Dosage Map Instructions<\/a><\/li>\n<li><a href=\"https:\/\/gelfondjal.shinyapps.io\/Chrom18GeneMap\/\">Clinical Dosage Maps<\/a><\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>If you use information from&nbsp;our Gene Dosage Maps in a publication, please cite us:&nbsp;<strong><em>Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C, Hale DE. (2018) Chromosome 18 Gene Dosage Map 2.0&nbsp;Hum Genet 137(11):961-970. doi:10.1007\/s00439-018-1960-6.<\/em><\/strong><\/p>\n<p>&nbsp;[\/vc_column_text][\/vc_column][vc_column width=&#8221;1\/3&#8243;]<nav id=\"subnav\" class=\"null\" aria-label=\"Sub navigation for Chromosome 18 Subnav\"><ul id=\"menu-chromosome-18-subnav\" class=\"subnav vertical menu accordion-menu\" data-accordion-menu><li id=\"menu-item-506\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-home menu-item-506\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/\">Home<\/a><\/li>\n<li id=\"menu-item-507\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-507\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/\">About Us<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-640\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-640\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/about-us\/our-team\/\">Our Team<\/a><\/li>\n\t<li id=\"menu-item-639\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-639\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/what-is-chromosome-18-abnormality\/\">What is a Chromosome 18 abnormality?<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-508\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-508\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=408\">Research<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-643\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-643\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/\">Clinical Assessment<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-644\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-644\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-assessment\/evaluation\/\">Evaluation Purpose and Procedures<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-645\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-645\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/clinical-dosage-map-instructions\/\">Clinical Dosage Map Instructions<\/a><\/li>\n\t<li id=\"menu-item-646\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-646\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/deletion-clinical-dosage-map-legend\/\">Deletion Clinical Dosage Map Legend<\/a><\/li>\n\t<li id=\"menu-item-647\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-647\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/gene-dosage-track-legend\/\">Gene Dosage Track Legend<\/a><\/li>\n\t<li id=\"menu-item-648\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-648\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/path-to-treatment\/\">Path to Treatment<\/a><\/li>\n\t<li id=\"menu-item-649\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-649\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/?page_id=561\">Phenotype Track<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-858\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-858\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884264926_hn6iHMJzv9LO3nFmOdJiwp3soiMC\">Phenotype Deletion Map<\/a><\/li>\n\t\t<li id=\"menu-item-859\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-859\"><a href=\"https:\/\/genome.ucsc.edu\/cgi-bin\/hgTracks?db=hg19&#038;lastVirtModeType=default&#038;lastVirtModeExtraState=&#038;virtModeType=default&#038;virtMode=0&#038;nonVirtPosition=&#038;position=chr18%3A1%2D78077248&#038;hgsid=1884265652_EZW3C1gYccZy8K8mq1vjkNvPnA1w\">Phenotype Duplication Map<\/a><\/li>\n\t<\/ul>\n<\/li>\n\t<li id=\"menu-item-735\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-735\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research-1\/publications\/\">Publications<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-509\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-509\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/\">Our Program<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-650\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-650\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/our-program\/current-studies\/\">Current Studies<\/a><\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-510\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-510\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/enrollment\/\">Enrollment<\/a><\/li>\n<li id=\"menu-item-511\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-511\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/\">Resources<\/a>\n<ul class=\"sub-menu\">\n\t<li id=\"menu-item-651\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-651\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/\">Clinical Management Guides<\/a>\n\t<ul class=\"sub-menu\">\n\t\t<li id=\"menu-item-666\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-666\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18q-summary\/\">What is 18q: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-656\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-656\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/distal-18q-treatment-and-surveillance\/\">Distal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-657\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-657\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/proximal-18q-treatment-and-surveillance\/\">Proximal 18q- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-667\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-667\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-summary\/\">What is Ring 18: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-659\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-659\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-treatment-and-surveillance-2\/\">Ring 18- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-850\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-850\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/ring-18-distal-treatment-and-surveillance\/\">Ring 18 Distal- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-665\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-665\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-summary\/\">What is 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-655\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-655\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/18p-treatment-surveillance\/\">18p- Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-660\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-has-children menu-item-660\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-summary\/\">Tetrasomy 18p: Sixty-Second Summary<\/a>\n\t\t<ul class=\"sub-menu\">\n\t\t\t<li id=\"menu-item-662\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-662\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/initial-evaluations\/\">Initial Evaluations After Diagnosis<\/a><\/li>\n\t\t\t<li id=\"menu-item-663\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-663\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/potential-conditions\/\">Potential Conditions in a Neonate<\/a><\/li>\n\t\t\t<li id=\"menu-item-661\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-661\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/immediate-referrals\/\">Immediate Referrals to<\/a><\/li>\n\t\t<\/ul>\n<\/li>\n\t\t<li id=\"menu-item-851\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-851\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/tetrasomy-18p-treatment-and-surveillance-2\/\">Tetrasomy 18p: Treatment and Surveillance<\/a><\/li>\n\t\t<li id=\"menu-item-668\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-668\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-summary\/\">What is Trisomy 18p: A Sixty-Second Summary<\/a><\/li>\n\t\t<li id=\"menu-item-664\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-664\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/resources\/clinical-management-guides\/trisomy-18p-treatment-and-surveillance\/\">Trisomy 18p: Treatment and Surveillance<\/a><\/li>\n\t<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li id=\"menu-item-512\" class=\"menu-item menu-item-type-post_type menu-item-object-page menu-item-512\"><a href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/contact-us\/\">Contact Us<\/a><\/li>\n<li id=\"menu-item-669\" class=\"menu-item menu-item-type-custom menu-item-object-custom menu-item-669\"><a href=\"https:\/\/www.chromosome18.org\/\">Chromosome 18 Registry &amp; Research Society<\/a><\/li>\n<\/ul><\/nav>\n            <div class=\"callout  \" >\n                    <\/p>\n<h3>Citation Notice<\/h3>\n<p>If you use information from\u00a0our Gene Dosage Maps in a publication, please cite us:<\/p>\n<p><em>Cody JD, Heard P, Rupert D, Hasi-Zogaj M, Hill A, Sebold C, Hale DE. (2018) Chromosome 18 Gene Dosage Map 2.0\u00a0Hum Genet 137(11):961-970. doi:10.1007\/s00439-018-1960-6.<\/em><\/p>\n<\/div>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text css=&#8221;&#8221;] Determine the effects of chromosome 18 gene deletions or duplications. There are two sets of maps. The first set (Scientific Maps) are more scientifically oriented with gene dosage information for every gene on chromosome 18. The second set is (Clinical Maps) are medically-oriented with information for only those few genes that have [&hellip;]<\/p>\n","protected":false},"author":38,"featured_media":502,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[],"class_list":["post-901","page","type-page","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Research - Chromosome 18<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/wp.uthscsa.edu\/chromosome-18\/research\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Research - Chromosome 18\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=&#8221;2\/3&#8243;][vc_column_text css=&#8221;&#8221;] Determine the effects of chromosome 18 gene deletions or duplications. There are two sets of maps. The first set (Scientific Maps) are more scientifically oriented with gene dosage information for every gene on chromosome 18. 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