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.
Bioethicists disagree with a research team's decision to allow the return of risk results for adult-onset conditions from a newborn sequencing project, according to Reuters.
Alterations to particular gene may enable the Quechua of Peru to better tolerate high-altitude life, Ars Technica reports.
Nature News reports that additional South Korean researchers have included the names of children on scientific papers when they did not contribute to the work.
In PLOS this week: statistical approach to prioritize rare variant searches, gene expression alterations in chronic obstructive pulmonary disease, and more.