A Paradigm For Calling Sequence In Families: The Long Life Family Study
E. Warwick Daw, Jason A. Anema, Karen Schwander, Shiow Jiuan Lin, Lihua Wang, Mary K. Wojczynski, Bharat Thyagarajan, Nathan O. Stitziel, Michael A. Province
The paper describes a system for quality assurance of whole genome sequence data in family studies, focusing on identifying germline variants and improving call accuracy through family-based filters.
bioRxiv · May 23, 2024 · PreprintGenetics