This GA4GH Connect session will provide an overview of the GA4GH Whole Genome Sequencing (WGS) Quality Control (QC) Standards product. It will highlight the metrics definitions put forth by the group for short-read germline WGS post-alignment and post-variant calling quality control alongside the standard reference implementation. The session aims to engage both data generation initiatives as well as GA4GH Driver Projects, promote adherence to standardised guidelines, strengthen confidence in data quality, and enable seamless exchange of QC results across initiatives and projects.
Additionally, this session will serve as a platform for the broader GA4GH community to provide feedback on the WGS QC 2025 road map, particularly regarding the expansion of WGS QC standards to long-read sequencing and somatic mutation analysis.
The session will also explore how Data Connect and Data Model and Schema Consensus (DaMaSC) can support the integration of WGS QC within the GA4GH product ecosystem.
Merkin Building
Cambridge, MA 02142
United States