Extracting and calibrating evidence of variant pathogenicity from population biobank data

• Authors: Vineel Bhat; Tian Yu; Lara Brown; Vikas Pejaver; Matthew Lebo; Steven Harrison; Christopher A. Cassa
• Collaborators: Brigham and Women's Hospital; Harvard Medical School; Icahn School of Medicine at Mount Sinai
• Journal: American Journal of Human Genetics
• Date: 2025 - Jul