{"id":25843,"date":"2023-05-24T10:18:18","date_gmt":"2023-05-24T14:18:18","guid":{"rendered":"https:\/\/genomequebec.com\/financed-project\/development-of-comprehensive-cytogenomics-and-molecular-genetics-testing-using-an-exome-and-low-pass-whole-genome-sequencing-combined-approach\/"},"modified":"2024-01-19T13:52:38","modified_gmt":"2024-01-19T18:52:38","slug":"development-of-comprehensive-cytogenomics-and-molecular-genetics-testing-using-an-exome-and-low-pass-whole-genome-sequencing-combined-approach","status":"publish","type":"financed-project","link":"https:\/\/genomequebec.com\/en\/funded-projects\/development-of-comprehensive-cytogenomics-and-molecular-genetics-testing-using-an-exome-and-low-pass-whole-genome-sequencing-combined-approach\/","title":{"rendered":"Development of Comprehensive Cytogenomics and Molecular Genetics Testing Using an Exome and Low-Pass Whole Genome Sequencing Combined Approach"},"content":{"rendered":"<p class=\"Normal1\">Copy number variants (CNVs \u2013 repetitive regions within the genome that vary from individual to individual) are implicated in a range of diseases and disabilities in humans, including cancer, intellectual disabilities and congenital abnormalities. Current methods for the detection of CNVs are costly and time-consuming, with limited accuracy and clinical utility, reducing the likelihood of appropriate treatment and placing an unnecessary burden on the healthcare system and on patients\u2019 health and well-being.<\/p>\n<p class=\"Normal1\">\n<p class=\"Normal1\">Fulgent Genetics, which has a Canadian presence in Qu\u00e9bec City, is working with Dr. R\u00e9gen Drouin from Universit\u00e9 Laval to develop a more efficient and cost-effective test for CNVs. Their technology, NOVA<strong><sup>CNV+<\/sup><\/strong>, will replace three existing cytogenetic testing methods with a next generation sequencing-based technology. The result will be improved testing resolution, accuracy, cost-effectiveness and further integration into genomic medicine.<\/p>\n<p class=\"Normal1\">\n<p class=\"Normal1\">The research team estimates that 50,000 NOVA<strong><sup>CNV+<\/sup><\/strong> tests could replace approximately 100,000 tests required each year with the current methods, saving the Canadian healthcare system at least $12.5\u00a0million per year. The development, clinical validation and implementation of this test will provide an attractive, long-term return on investment for Canada\u2019s economy and for the health of Canadians. The establishment of a clinical and commercial genomic diagnostic industry in Canada will also help put the country at the forefront of personalized genomic medicine.<\/p>\n<p class=\"Normal1\"><strong>Lead Genome Centre:\u00a0<\/strong>G\u00e9nome Qu\u00e9bec<\/p>\n<p><strong>Co-project leader:\u00a0<\/strong><\/p>\n<table border=\"0\" cellspacing=\"0\" cellpadding=\"0\">\n<colgroup>\n<col span=\"2\" width=\"112\" \/>\n<col width=\"511\" \/><\/colgroup>\n<tbody>\n<tr>\n<td class=\"xl65\" width=\"112\" height=\"19\">Harry<\/td>\n<td class=\"xl65\" width=\"112\">Gao<\/td>\n<td class=\"xl66\" width=\"511\">Fulgent Genetics<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"featured_media":0,"template":"","class_list":["post-25843","financed-project","type-financed-project","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/genomequebec.com\/en\/wp-json\/wp\/v2\/financed-project\/25843","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=25843"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}