{"id":4286,"date":"2016-01-12T17:23:48","date_gmt":"2016-01-12T22:23:48","guid":{"rendered":"https:\/\/engineering.jhu.edu\/magazine-archive\/?p=4286"},"modified":"2017-05-12T15:06:55","modified_gmt":"2017-05-12T19:06:55","slug":"rare-variants-in-the-crosshairs-2","status":"publish","type":"post","link":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/","title":{"rendered":"Rare Variants in the Crosshairs"},"content":{"rendered":"

\"Crosshairs\"<\/a>Ever since the first draft of the human genome was published nearly 15 years ago, researchers have been working hard to make sense of the information encoded in the 3 billion base pairs that make up our genome\u2014most importantly, for those that might have implications for health. Thus far, they\u2019ve linked thousands of genes to diseases ranging from cancers to autism, mostly through genetic association studies. These studies look for commonalities between the genetic profiles of people, numbering from a handful to hundreds of thousands, to connect their specific genetic variants to diseases.<\/p>\n

But what if a genetic variant responsible for a patient\u2019s disease is very rare\u2014perhaps so rare that there has been only one person sequenced in the entire world who has it? Such a scenario makes an association test mathematically impossible.<\/p>\n

However, says Alexis Battle<\/a>, an assistant professor in the Department of Computer Science<\/a> and member of the Computational Biology and Medicine Group and Machine Learning and Data Intensive Computing Group, it may still be possible to attach meaning even to very rare genetic variants using machine learning.<\/p>\n

Even though researchers may have never seen a particular genetic variant before, they\u2019ve often seen other variants that have something in common with this one, explains Battle. Maybe it\u2019s located close in the genome to other genes that they already know something about. Or perhaps it binds proteins that are known to bind to other disease-related genes. The sequence near it might be similar to better-studied regions of the genome.<\/p>\n

Battle and her colleagues are programming computers to analyze thousands of data points, combining diverse medical and biological measurements from individuals with rare genetic variants. Anything that might offer a clue into their function is valuable, Battle says.<\/p>\n

\u201cIf we can say anything at all about these rare variants,\u201d she adds, \u201cit could have a huge impact on countless diseases.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

Ever since the first draft of the human genome was published nearly 15 years ago, researchers have been working hard to make sense of the information encoded in the 3 billion base pairs that make up our genome\u2014most importantly, for those that might have implications for health. Thus far, they\u2019ve linked thousands of genes to…<\/p>\n","protected":false},"author":4,"featured_media":4296,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[24],"tags":[264,263,153,152,151,119],"class_list":["post-4286","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-impact","tag-health","tag-genome","tag-machine-learning-and-data-intensive-computing-group","tag-computational-biology-and-medicine-group","tag-alexis-battle","tag-department-of-computer-science","issue-winter-2016"],"acf":[],"yoast_head":"\nRare Variants in the Crosshairs - JHU Engineering Magazine<\/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:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rare Variants in the Crosshairs - JHU Engineering Magazine\" \/>\n<meta property=\"og:description\" content=\"Ever since the first draft of the human genome was published nearly 15 years ago, researchers have been working hard to make sense of the information encoded in the 3 billion base pairs that make up our genome\u2014most importantly, for those that might have implications for health. Thus far, they\u2019ve linked thousands of genes to...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/\" \/>\n<meta property=\"og:site_name\" content=\"JHU Engineering Magazine\" \/>\n<meta property=\"article:published_time\" content=\"2016-01-12T22:23:48+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2017-05-12T19:06:55+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"200\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Abby Lattes\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Abby Lattes\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"NewsArticle\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/\"},\"author\":{\"name\":\"Abby Lattes\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/#\\\/schema\\\/person\\\/0244393be370fbc3ead8ec26062e9742\"},\"headline\":\"Rare Variants in the Crosshairs\",\"datePublished\":\"2016-01-12T22:23:48+00:00\",\"dateModified\":\"2017-05-12T19:06:55+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/\"},\"wordCount\":319,\"commentCount\":0,\"image\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/wp-content\\\/uploads\\\/2016\\\/01\\\/eqtl_cover_white-2_EDIT_THUMB.jpg\",\"keywords\":[\"health\",\"genome\",\"Machine Learning and Data Intensive Computing Group\",\"Computational Biology and Medicine Group\",\"Alexis Battle\",\"Department of Computer Science\"],\"articleSection\":[\"Impact\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/\",\"url\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/\",\"name\":\"Rare Variants in the Crosshairs - JHU Engineering Magazine\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/wp-content\\\/uploads\\\/2016\\\/01\\\/eqtl_cover_white-2_EDIT_THUMB.jpg\",\"datePublished\":\"2016-01-12T22:23:48+00:00\",\"dateModified\":\"2017-05-12T19:06:55+00:00\",\"author\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/#\\\/schema\\\/person\\\/0244393be370fbc3ead8ec26062e9742\"},\"breadcrumb\":{\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#primaryimage\",\"url\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/wp-content\\\/uploads\\\/2016\\\/01\\\/eqtl_cover_white-2_EDIT_THUMB.jpg\",\"contentUrl\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/wp-content\\\/uploads\\\/2016\\\/01\\\/eqtl_cover_white-2_EDIT_THUMB.jpg\",\"width\":300,\"height\":200,\"caption\":\"Crosshairs Thumb\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/2016\\\/01\\\/rare-variants-in-the-crosshairs-2\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Rare Variants in the Crosshairs\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/#website\",\"url\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/\",\"name\":\"JHU Engineering Magazine\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/engineering.jhu.edu\\\/magazine-archive\\\/#\\\/schema\\\/person\\\/0244393be370fbc3ead8ec26062e9742\",\"name\":\"Abby Lattes\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g\",\"caption\":\"Abby Lattes\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Rare Variants in the Crosshairs - JHU Engineering Magazine","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/","og_locale":"en_US","og_type":"article","og_title":"Rare Variants in the Crosshairs - JHU Engineering Magazine","og_description":"Ever since the first draft of the human genome was published nearly 15 years ago, researchers have been working hard to make sense of the information encoded in the 3 billion base pairs that make up our genome\u2014most importantly, for those that might have implications for health. Thus far, they\u2019ve linked thousands of genes to...","og_url":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/","og_site_name":"JHU Engineering Magazine","article_published_time":"2016-01-12T22:23:48+00:00","article_modified_time":"2017-05-12T19:06:55+00:00","og_image":[{"width":300,"height":200,"url":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg","type":"image\/jpeg"}],"author":"Abby Lattes","twitter_card":"summary_large_image","twitter_misc":{"Written by":"Abby Lattes","Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"NewsArticle","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#article","isPartOf":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/"},"author":{"name":"Abby Lattes","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/#\/schema\/person\/0244393be370fbc3ead8ec26062e9742"},"headline":"Rare Variants in the Crosshairs","datePublished":"2016-01-12T22:23:48+00:00","dateModified":"2017-05-12T19:06:55+00:00","mainEntityOfPage":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/"},"wordCount":319,"commentCount":0,"image":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#primaryimage"},"thumbnailUrl":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg","keywords":["health","genome","Machine Learning and Data Intensive Computing Group","Computational Biology and Medicine Group","Alexis Battle","Department of Computer Science"],"articleSection":["Impact"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/","url":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/","name":"Rare Variants in the Crosshairs - JHU Engineering Magazine","isPartOf":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/#website"},"primaryImageOfPage":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#primaryimage"},"image":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#primaryimage"},"thumbnailUrl":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg","datePublished":"2016-01-12T22:23:48+00:00","dateModified":"2017-05-12T19:06:55+00:00","author":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/#\/schema\/person\/0244393be370fbc3ead8ec26062e9742"},"breadcrumb":{"@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#primaryimage","url":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg","contentUrl":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-content\/uploads\/2016\/01\/eqtl_cover_white-2_EDIT_THUMB.jpg","width":300,"height":200,"caption":"Crosshairs Thumb"},{"@type":"BreadcrumbList","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/2016\/01\/rare-variants-in-the-crosshairs-2\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/engineering.jhu.edu\/magazine-archive\/"},{"@type":"ListItem","position":2,"name":"Rare Variants in the Crosshairs"}]},{"@type":"WebSite","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/#website","url":"https:\/\/engineering.jhu.edu\/magazine-archive\/","name":"JHU Engineering Magazine","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/engineering.jhu.edu\/magazine-archive\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/engineering.jhu.edu\/magazine-archive\/#\/schema\/person\/0244393be370fbc3ead8ec26062e9742","name":"Abby Lattes","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/c56cb7af5427f847aa288542444ba9ff3d2107bf85dc6c6d44a4d1315608258d?s=96&r=g","caption":"Abby Lattes"}}]}},"_links":{"self":[{"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/posts\/4286","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/comments?post=4286"}],"version-history":[{"count":4,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/posts\/4286\/revisions"}],"predecessor-version":[{"id":4295,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/posts\/4286\/revisions\/4295"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/media\/4296"}],"wp:attachment":[{"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/media?parent=4286"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/categories?post=4286"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/engineering.jhu.edu\/magazine-archive\/wp-json\/wp\/v2\/tags?post=4286"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}