A scientific mystery highlights the blind spots in genomics databases Andrew Joseph By Andrew Joseph March 20, 2024

https://www.statnews.com/2024/03/20/genomics-databases-scientific-mystery-gene-variant/?utm_campaign=morning_rounds&utm_medium=email&_hsmi=298983789&_hsenc=p2ANqtz-8Vn6i2ybIpd0AhMcNXJwnwgY64YTMpmOTDGInUKZWXz3bhlTrtUvC23CU4gfO2rz71DtoFqS92a7r7n2HgyDFk9yvdFQ&utm_content=298983789&utm_source=hs_email A medical mystery or a blind spot? What does “rare” mean? It depends on the context. When that context is the world of genomic datasets dominated by European samples, it requires deeper sleuthing to determine what’s a mystery and what’s not. A preprint paper illustrates this point with the cases of two people who died young from heart problems and shared a particular variant of a gene that helps the heart beat. According to available datasets, the variant qualified as rare. And without knowing its meaning, one lab concluded it was likely disease-causing. That was before looking harder. Researchers who authored the new report found that the two patients were of Oceanian ancestry, among the least represented populations in DNA databases, meaning their genetic variants likely aren’t reflected in rates saying how common they actually are. And it turned out the variant was not so rare after all. STAT’s Andrew Joseph explains. https://www.medrxiv.org/content/10.1101/2024.02.08.24302375v1.full?utm_campaign=morning_rounds&utm_medium=email&_hsmi=298983789&_hsenc=p2ANqtz-9S-9TWPtLUYA25irOtVBy4zIP1QIh06oYR3zKjD4q3tph0Hv-gRDqDUvg70RT7pgxK_wO_aNtECg5ZM0jciZBvm1RJLw&utm_content=298983789&utm_source=hs_email