{"id":3544,"date":"2016-12-03T15:59:55","date_gmt":"2016-12-03T15:59:55","guid":{"rendered":"http:\/\/blogs.sld.cu\/oserranob\/?p=3544"},"modified":"2016-12-03T15:59:55","modified_gmt":"2016-12-03T15:59:55","slug":"aplicaciones-diagnosticas-de-las-tecnologias-de-secuenciacion","status":"publish","type":"post","link":"https:\/\/blogs.sld.cu\/oserranob\/2016\/12\/03\/aplicaciones-diagnosticas-de-las-tecnologias-de-secuenciacion\/","title":{"rendered":"Aplicaciones diagn\u00f3sticas de las tecnolog\u00edas de secuenciaci\u00f3n"},"content":{"rendered":"<p>&#8211; <a title=\"Genetics in Medicine 2016;18:1090\u20131096. \" href=\"http:\/\/www.nature.com\/gim\/journal\/v18\/n11\/full\/gim20161a.html\" target=\"_blank\">A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders<\/a><br \/>\n&#8211; <a title=\"Genome Biology 2016;17:243. \" href=\"http:\/\/genomebiology.biomedcentral.com\/articles\/10.1186\/s13059-016-1105-y\" target=\"_blank\">Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort<\/a><br \/>\n&#8211; <a title=\"Genome Biology 2016;17:241. \" href=\"http:\/\/genomebiology.biomedcentral.com\/articles\/10.1186\/s13059-016-1110-1\" target=\"_blank\">New insights into the generation and role of <em>de novo<\/em> mutations in health and disease<\/a><br \/>\n&#8211; <a title=\"Genome Biology 2016;17:242. \" href=\"http:\/\/genomebiology.biomedcentral.com\/articles\/10.1186\/s13059-016-1099-5\" target=\"_blank\">Characterizing the morbid genome of ciliopathies<\/a><br \/>\n&#8211; <a title=\"Front. Immunol., 07 November 2016; http:\/\/dx.doi.org\/10.3389\/fimmu.2016.00466  \" href=\"http:\/\/journal.frontiersin.org\/article\/10.3389\/fimmu.2016.00466\/full\" target=\"_blank\">Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing<\/a><br \/>\n&#8211; <a title=\"Genetics in Medicine 2016;18:1244\u20131249.\" href=\"http:\/\/www.nature.com\/gim\/journal\/v18\/n12\/full\/gim201637a.html\" target=\"_blank\">Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>&#8211; A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders &#8211; Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort &#8211; New insights into the generation and role of de novo mutations in health and disease &#8211; Characterizing the morbid genome [&hellip;]<\/p>\n","protected":false},"author":125,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[14,15,21,23,29],"tags":[],"_links":{"self":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3544"}],"collection":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/users\/125"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/comments?post=3544"}],"version-history":[{"count":1,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3544\/revisions"}],"predecessor-version":[{"id":3545,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/posts\/3544\/revisions\/3545"}],"wp:attachment":[{"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/media?parent=3544"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/categories?post=3544"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.sld.cu\/oserranob\/wp-json\/wp\/v2\/tags?post=3544"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}