{"id":145,"date":"2011-05-14T19:31:48","date_gmt":"2011-05-14T19:31:48","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=145"},"modified":"2011-05-14T19:31:48","modified_gmt":"2011-05-14T19:31:48","slug":"accounting-for-genetic-heterogeneity-in-homozygosity-mapping-application-to-mendelian-susceptibility-to-mycobacterial-disease","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/05\/14\/accounting-for-genetic-heterogeneity-in-homozygosity-mapping-application-to-mendelian-susceptibility-to-mycobacterial-disease\/","title":{"rendered":"Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease"},"content":{"rendered":"<p>Mendelian diseases for which a single mutation can be identified in a given patient may be characterized by genetic heterogeneity if different patients bear mutations in several different genes. We demonstrate through simulations that a statistical approach (called S\/EmpP) can more easily identify chromosomal regions likely to bear mutations in the context of genetic heterogeneity among consanguineous families compared to standard techniques. Using the S\/EmpP approach, we identified two mutations in the genes \/IL12RB1\/ and \/TYK2\/ from a sample of consanguineous families with Mendelian susceptibility to Mycobacterial Diseases. The S\/EmpP approach can be applied to studies of other Mendelian disorders. (By Audrey Grant, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/14\/jmg.2011.089128.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/05\/14\/jmg.2011.089128.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mendelian diseases for which a single mutation can be identified in a given patient may be characterized by genetic heterogeneity if different patients bear mutations in several different genes. We demonstrate through simulations that a statistical approach (called S\/EmpP) can more easily identify chromosomal regions likely to bear mutations in the context of genetic heterogeneity [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/05\/14\/accounting-for-genetic-heterogeneity-in-homozygosity-mapping-application-to-mendelian-susceptibility-to-mycobacterial-disease\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-145","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/145","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=145"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/145\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=145"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=145"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=145"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}