Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
Marcy E. Richardson, Megan A. Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian, Colin C. Young, Lauren Zec, Susan C. Hiraki, Michael J. Anderson, Logan C. Walker, Shannon M. McNulty, Clare Turnbull, Marc D. Tischkowitz, Katherine R. Schon, , Fergus J. Couch
The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.
medRxiv · May 28, 2024 · PreprintGenetic & Genomic Medicine