Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture
Nicola Whiffin, Angharad M. Roberts, Eric Vallabh Minikel, Zach Zappala, Roddy Walsh, Anne O’Donnell‐Luria, Konrad J. Karczewski, Steven M. Harrison, Kate L. Thomson, Helen D. Sage, Alexander Y. Ing, Paul J.R. Barton, Birgit Funke, Stuart A. Cook, Daniel G. MacArthur, James S. Ware
The paper responds to a critique of their variant filtering method, demonstrating its robustness and highlighting the benefits of using high-resolution variant frequencies for clinical genome interpretation.
The American Journal of Human Genetics · Jan 1, 2019Peer-reviewedGenomics