{"id":33653,"date":"2026-02-25T09:00:00","date_gmt":"2026-02-25T14:00:00","guid":{"rendered":"https:\/\/genomequebec.com\/?post_type=financed-project&#038;p=33653"},"modified":"2026-02-16T15:57:05","modified_gmt":"2026-02-16T20:57:05","slug":"long-read-based-whole-genome-sequencing-for-rare-disease-diagnosis-a-pilot-study","status":"publish","type":"financed-project","link":"https:\/\/genomequebec.com\/en\/funded-projects\/long-read-based-whole-genome-sequencing-for-rare-disease-diagnosis-a-pilot-study\/","title":{"rendered":"Long read-based whole genome sequencing for rare disease diagnosis: A pilot study"},"content":{"rendered":"\n<p><strong>User:<\/strong> Illumina<\/p>\n\n\n\n<p>Rare diseases, though individually uncommon, place a significant strain on healthcare systems due to delays in diagnosis, which can lead to unnecessary or even harmful treatments. Early and accurate diagnosis is crucial, yet standard genetic testing provides a diagnosis in only 20 to 40 percent of cases. This limited success is mainly due to two factors: most tests focus only on exons, missing large portions of the genome, and \u201cshort read\u201d sequencing can fail to detect certain mutations.<\/p>\n\n\n\n<p>In this pilot study, the team will apply Illumina&#8217;s new technology, which uses &#8220;long reads&#8221; and advanced software, including AI, to analyze genetic data. By testing 50 rare genetic diseases with no current diagnosis, the team aim to assess the technology&#8217;s ability to provide accurate diagnoses.<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-33653","financed-project","type-financed-project","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/genomequebec.com\/en\/wp-json\/wp\/v2\/financed-project\/33653","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/genomequebec.com\/en\/wp-json\/wp\/v2\/financed-project"}],"about":[{"href":"https:\/\/genomequebec.com\/en\/wp-json\/wp\/v2\/types\/financed-project"}],"wp:attachment":[{"href":"https:\/\/genomequebec.com\/en\/wp-json\/wp\/v2\/media?parent=33653"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}