genome interpretation

Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.

The sequencing giant is migrating its BaseSpace analytics products to AWS in hopes of simplifying user adoption and rapidly expanding its library of curated content.

British software firm Congenica is partnering with Hong Kong's Digital China Health Technologies to expand its clinical genomics interpretation business in China.

Under a new partnership, Finnish DTC testing company Negen will send its raw genetic test data to BC Platforms to aid in reporting test results to clinicians.

As part of an NIH SBIR grant, Genomenon is automating the curation of medical literature in its Mastermind variant interpretation software.

After a 2017 rebranding as Fabric Genomics, the former Omicia is looking to the future of genomics in community hospitals and national sequencing programs.

With VarSome's search function, Saphetor wants to link geneticists and clinicians and "everything to everything else" in its database.

With its purchase of decision support technology maker Interactive Biosoftware, Sophia looks to extend its AI platform deeper into NGS interpretation.

Malaysia-based ScienceVision has agreed to commercialize and distribute the PierianDx Clinical Genomics Workspace platform in Southeast Asian countries.

Through their partnership, Genomenon and Veritas Genetics hope to develop a new literature prioritization engine to bring down the cost of WGS interpretation.

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Hundreds of scientists have signed a letter criticizing the open-access Plan S, ScienceInsider reports.

NPR speaks with Rep. Eddie Bernice Johnson (D-Texas) about the US House of Representatives science committee.

A start-up company aiming to match cancer patients to treatments closes after about six weeks, Stat News reports.

In PLOS this week: somatic mutation associations unearthed in thousands of cancer exomes, pathogen detection assay, and more.