2 papers
q-bio.GN2025
Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem
Larry Babb, Carol Bult, Vincent J. Carey +7
In 2024, NHGRI-funded genomic resource projects completed a Self-Assessment Tool (SAT) and interviews to evaluate their application of FAIR (Findable, Accessible, Interoperable, Re…
q-bio.OT2024
GREGoR: Accelerating Genomics for Rare Diseases
Moez Dawood, Ben Heavner, Marsha M. Wheeler +31
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to…