Large-scale Canadian genome research studies like HostSeq provide researchers with an opportunity to study genetic variation in the Canadian population. Sharing this data with public databases such as ClinVar is important for advancing our understanding of genetic changes associated with disease risk and susceptibility. However, these databases are often incomplete or contain conflicting information. By summarizing and comparing the genetic data from thousands of HostSeq participants to the data in ClinVar, this research found that a considerable portion of disease-associated variation was missing or inconsistently described in the database, highlighting a need for regular review and re-evaluation to keep public databases accurate and reliable. (https://jmg.bmj.com/content/early/2026/02/27/jmg-2025-111029)
Clinically significant DNA variation from the GENCOV and HostSeq COVID-19 genome sequencing studies (Contributed by Erika Frangione)
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