The methods address challenges like recall and precision, comparing different representations of variant calls, and stratifying performance by variant type and genome context.
The Common Infrastructure for National Cohorts in Europe, Canada, and Africa (CINECA) project looks to harmonize ontologies and create an interoperability platform for global genomics research.
The alliance has also deepened its ongoing partnership with ELIXIR, while continuing to roll out new tools and standards for genomic data discovery, analysis, and interpretation.
Newly released APIs are the first products from the Global Alliance for Genomics and Health's strategic roadmap for interoperability of genomic information.
The document is one of the early fruits of GA4GH Connect, a five-year initiative to better align the group's objectives with the key needs of the international genomic data community.
An international commission is to develop a report on how researchers, clinicians, and regulators should evaluate the clinical applications of human germline genome editing.
In Genome Research this week: repetitive element deletion linked to altered methylation and more in form of muscular dystrophy; human contamination in draft bacterial and archaeal genomes; and more.
