Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

  • Authors: Vikas Pejaver; Alicia B Byrne; Bing-Jian Feng; Kymberleigh A Pagel; Sean D Mooney; Rachel Karchin; Anne O'Donnell-Luria; Steven M. Harrison; Sean V. Tavtigian; Marc S Greenblatt; Leslie G. Biesecker; Predrag Radivojac; Ahmad Abou Tayoun; Jonathan S. Berg; Steven E. Brenner; Garry Cutting; Sian Ellard; Peter Kang; Izabela Karbassi; Jessica Mester; Tina Pesaran; Sharon E. Plon; Heidi L. Rehm; Natasha Strande; Sean Tavtigian; Scott Topper
  • Collaborators: Boston Children's Hospital; Broad Institute of MIT and Harvard; Massachusetts General Hospital; National Institutes of Health; Northeastern University; The Johns Hopkins Hospital; University of Utah; University of Vermont Cancer Center; University of Washington
  • Journal: American Journal of Human Genetics
  • Date: 2022 - Dec

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