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At ASHG, a FinnGen researcher reported new recessive disease associations for cataracts, hearing loss, and other conditions, identified through the population study.
Since the mutations are only found in a subset of patients' blood cells, the disorder, called VEXAS, might be treatable with a bone marrow transplant.
Within the KiCS study researchers found targetable mutations in more than half of the kids, but few actually received drugs based on those molecular markers.
President Donald Trump's "good genes" comment raises eugenics concerns, CNN reports.
Visium, which provides gene expression information along with spatial information from the same tissue sample, will be shipped later next month.
According to simulations and a study of large families presented at ASHG this week, current polygenic scores cannot accurately predict complex human traits.
At ASHG, researchers showed why they're moving away from limited, linear human reference genome representations and towards a more inclusive future.
A study presented at ASHG Tuesday showed that newly identified schizophrenia risk genes appear to have some overlap with genes involved in autism spectrum disorder.
The initiative, funded in partnership with NHGRI and Color, will mentor 40 trainees through a competitive process and host programs to encourage diversity.
The guidelines suggest researchers recontact participants when there is change in the interpretation of their genetic results that could affect medical management.
IBM security researchers warn of a phishing campaign targeted at organizations involved in the distribution of SARS-CoV-2 vaccines, the Verge reports.
The Illinois police have cut the number of DNA tests waiting to be run in about half, CBS Chicago reports.
A researcher accused of smuggling research materials out of the US has pleaded guilty to making false statements, according to the Associated Press.
In Science this week: gene expression signature linked to nonalcoholic fatty liver disease progression, and more.