{"id":1741,"date":"2022-06-28T16:47:42","date_gmt":"2022-06-28T16:47:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1741"},"modified":"2026-02-23T00:48:53","modified_gmt":"2026-02-23T00:48:53","slug":"uncovering-the-burden-of-hidden-ciliopathies-in-the-100-000-genomes-project-a-reverse-phenotyping-approach","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/28\/uncovering-the-burden-of-hidden-ciliopathies-in-the-100-000-genomes-project-a-reverse-phenotyping-approach\/","title":{"rendered":"Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach (Contributed by Prof. Colin A. Johnson)"},"content":{"rendered":"<p>Whole genome sequencing (WGS) is a technique to determine every letter of DNA for an individual. The UK 100,000 Genomes Project (100K) performed WGS for NHS patients with rare diseases, including a group of genetic disorders called ciliopathies. Here, Best et al. analysed WGS data from ciliopathy patients in 100K using a reverse phenotyping strategy. This means they first looked for damaging DNA changes, then linked these findings to clinical data about the patients (their phenotype), to see if they could match and provide new genetic diagnoses. Through this approach, they improved diagnosis rates by 41%. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/28\/jmedgenet-2022-108476\">https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/28\/jmedgenet-2022-108476<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/28\/uncovering-the-burden-of-hidden-ciliopathies-in-the-100-000-genomes-project-a-reverse-phenotyping-approach\/unnamed-9\/\" rel=\"attachment wp-att-1742\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-1742\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/unnamed.png\" alt=\"\" width=\"276\" height=\"220\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Whole genome sequencing (WGS) is a technique to determine every letter of DNA for an individual. The UK 100,000 Genomes Project (100K) performed WGS for NHS patients with rare diseases, including a group of genetic disorders called ciliopathies. Here, Best et al. analysed WGS data from ciliopathy patients in 100K using a reverse phenotyping strategy. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/28\/uncovering-the-burden-of-hidden-ciliopathies-in-the-100-000-genomes-project-a-reverse-phenotyping-approach\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1741","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach (Contributed by Prof. Colin A. Johnson) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2022\/06\/28\/uncovering-the-burden-of-hidden-ciliopathies-in-the-100-000-genomes-project-a-reverse-phenotyping-approach\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach (Contributed by Prof. Colin A. Johnson) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Whole genome sequencing (WGS) is a technique to determine every letter of DNA for an individual. The UK 100,000 Genomes Project (100K) performed WGS for NHS patients with rare diseases, including a group of genetic disorders called ciliopathies. 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