Using exomes and linked electronic health records, the team uncovered a loss-of-function variant associated with decreased risk of liver disease and cirrhosis.
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.
In Genome Biology this week: gut microbiome study of individuals from Tanzania and Botswana, sixth version of the Network of Cancer Genes database, and more.
