Article
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies.
Journal of medical genetics - 20 Apr 2026
Frangione Erika, Mahajan Radhika, De Los Rios Juan, Casalino Selina, Aujla Navneet, Arnoldo Saranya, Binnie Alexandra, Borgundvaag Bjug, Dagher Marc, Devine Luke, Faghfoury Hanna, Friedman Steven Marc, Fung Chun Yiu Jordan, Khan Zeeshan, Morgan Gregory, Richardson David, Stern Seth, Taher Ahmed, Taher Jennifer, Lerner-Ellis Jordan
Abstract excerpt
BACKGROUND: Vast amounts of genome sequencing data generated from large-scale research studies like HostSeq provide an opportunity to summarise the spectrum of pathogenic variation in a subset of the Canadian population. Sharing variant-level data with public databases, like ClinVar, is crucial for advancing our understanding of genomic variants related to Mendelian diseases. However, such entries are often...
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