In PNAS this week: optical mapping allows glimpse of structural variants, disease-linked GATA2 mutations boosts its protein activity, and more.
Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.
A $5 million NIH grant will fund CPIC's ongoing work to develop PGx guidelines and an API for incorporating them into EHRs and clinical decision support systems.
Two research teams find a role for PIEZO2 in touch sensitivity after injury and inflammation.
Researchers reached clinical diagnoses in 35 percent of cases undergoing evaluation over 20 months, sometimes leading to treatment changes.
The National Institutes of Health Commercial Accelerator Program helps small healthcare and life science companies bring their products to market.
ScienceInsider reports that about half the recipients of this year's Pioneer Awards and Early Independence Awards from the National Institutes of Health were women.
The funding, spread over 89 awards, includes grants for molecular and genomics research efforts across multiple institutions, by early-career and otherwise innovative scientists.
The bipartisan bill passed both the House and Senate by large margins and increases the NIH's budget by 5.4 percent over its fiscal 2018 funding level.
The increase is part of a larger appropriations package that has cleared the Senate and has now been sent to President Trump for his signature.
This year's Breakthrough Prize winners include a pair that developed a therapy for spinal muscular atrophy.
The New York Times reports on how white supremacists misconstrue genetic research, concerning many geneticists.
Researchers find that people's genetics influence their success at university, but that it is not the only factor.
In Nature this week: approach to identify genetic variants that affect trait variability, application of read clouds to microbiome samples, and more.