The DocUBuild tool grew out of the eMERGE network and helps institutions curate and manage genomic educational material for clinicians and patients alike.
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 health system hopes to pair the data with nearly three decades worth of electronic health records as well as medical histories provided by contributors.
In Science this week: analysis of DNA from ancient North Africans, and more.
Data aggregator InterSystems will integrate Edico Genome's DRAGEN CGIS into EHRs for easier test ordering and bidirectional data exchange.
Meditech, one of the oldest existing EHR companies, has staked out a role in supporting precision medicine with drug-gene interaction testing.
Irish rare disease research center FutureNeuro is partnering with software vendor Congenica to bring sequencing to the point of care for genetic epilepsies.
Following some major integration issues and other data challenges, Stanford is preparing to expand genomic medicine beyond rare diseases and cancer.
Amgen will use BC Platforms' tools and services to study data in multiple indications, including cardiovascular and bone diseases, hematological malignancies, and other cancers.
Organizers will not only collect genetic data on participants, but report back genetic risks via the country's national health information system.
A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.
Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.
In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.
A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.