Using tumor and matched normal sequence data generated for tens of thousands of cancer patients, the team identified mosaic cancer susceptibility in around one in 1,000 cases.
Rare variants turned up across epilepsy cases but appeared to be more common in mutation-intolerant gene regions in individuals with the most severe epilepsy subtype.
Genes in immune-related pathways were among those flagged when researchers used RNA sequencing on blood samples to look at functional genetic features in the population.
Data presented at the ASHG virtual meeting highlighted the population insights that can be gleaned from IDB profiles in populations, including loci linked to blood traits.
At the ASHG conference, a researcher described efforts to sequence SARS-CoV-2 genomes from Oregon to investigate introductions, super-spreader events, and viral biology.
Using data for more than 10,200 individuals with autism spectrum disorder and their family members, researchers delineated rare, inherited alterations and de novo changes.
At ASHG, a FinnGen researcher reported new recessive disease associations for cataracts, hearing loss, and other conditions, identified through the population study.
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.
Interim results from a study in the Netherlands suggest whole-genome sequencing can be done fast enough to uncover treatment targets in metastatic cancer patients.
Patients with discordant p16 and HPV markers fall into an intermediate risk group, research presented at the European cancer conference suggests.