In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.
Using exomes and linked electronic health records, the team uncovered a loss-of-function variant associated with decreased risk of liver disease and cirrhosis.
The partners will sequence Indian populations in order to uncover the role of genetic variation in human biology and disease.
The Regeneron Genetics Center will sequence the full exomes of all DNA samples in the non-profit group's open-access biospecimen repository.
Regeneron Pharmaceuticals and its collaborators plan to sequence the exomes all of the UK Biobank participants by then end of 2019.
By the end of 2019, Regeneron plans sequence the exomes of all 500,000 participants in the UK Biobank.
Since 2015, the Regeneron Genetics Center has sequenced 250,000 exomes from phenotyped individuals, identifying "human knockouts" and other large-effect mutations.
Geisinger is hoping to help others around the country implement precision medicine, which requires significant investment in genomics expertise, as well as infrastructural and operational changes.
The company believes its product, called Constellation, will differentiate itself from current commercial offerings in terms of throughput and multiplexing capability.
A number of genomics companies have made Technology Review's list of smart companies.
US News & World Report writes that genetic testing of lung tumors can help identify treatments for patients.
A team of researchers plans to sample Loch Ness for environmental DNA, according to Newsweek.
The New York Times writes about the appearance of mosaicism in healthy people.
In PNAS this week: insecticide resistance patterns Anopheles gambiae mosquito, transcriptome patterns in Pseudomonas aeruginosa during infection, and more.