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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&#x  Donnell-Luria,Steven M. Harrison,Sean V. Tavtigian,Marc S. Greenblatt,Leslie G. Biesecker,Predrag Radivojac,Steven E. Brenner,ClinGen Sequence Variant Interpretation Working Group
Affiliation:1. Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;3. Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA 98195, USA;4. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA;5. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA;6. Department of Dermatology, University of Utah, Salt Lake City, UT 84132, USA;7. Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA;8. The Institute for Computational Medicine, The Johns Hopkins University, Baltimore, MD 21218, USA;9. Departments of Biomedical Engineering, Oncology, and Computer Science, The Johns Hopkins University, Baltimore, MD 21218, USA;10. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA;11. Ambry Genetics, Aliso Viejo, CA 92656, USA;12. Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84112, USA;13. Department of Medicine and University of Vermont Cancer Center, University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA;14. Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;15. Khoury College of Computer Sciences, Northeastern University, Boston, MA 02115, USA;16. Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, Berkeley, CA 94720, USA
Abstract:
Keywords:ACMG/AMP recommendations  PP3/BP4 criteria  clinical classification  variant interpretation  computational predictors  posterior probability  likelihood ratio
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