General

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3

  • Authors: Timothy Bergquist; Sarah L Stenton; Emily A W Nadeau; Alicia B Byrne; Marc S Greenblatt; Steven M Harrison; Sean V Tavtigian; Anne O'Donnell-Luria; Leslie G Biesecker; Predrag Radivojac; Steven E Brenner; Vikas Pejaver; ClinGen Sequence Variant Interpretation Working Group
  • Collaborators: Boston Children's Hospital; Broad Institute of MIT and Harvard; Icahn School of Medicine at Mount Sinai; National Human Genome Research Institute; Northeastern University; University of California, Berkeley; University of Utah; University of Vermont Cancer Center
  • Journal: Genetics in Medicine
  • Date: 2024 - Sep
  • Topics: Professional Societies Variant Assess. & Interpretation

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