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Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN
Authors:Shawn Fayer  Carrie Horton  Jennifer N. Dines  Alan F. Rubin  Marcy E. Richardson  Kelly McGoldrick  Felicia Hernandez  Tina Pesaran  Rachid Karam  Brian H. Shirts  Douglas M. Fowler  Lea M. Starita
Affiliation:1. Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA;2. Department of Bioengineering, University of Washington, Seattle, WA 98195, USA;3. Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA;4. Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA;5. Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia;6. Department of Medical Biology, University of Melbourne, Melbourne, VIC 3010, Australia;7. Ambry Genetics, Aliso Viejo, CA 92656, USA
Abstract:
Keywords:BRCA1  TP53  PTEN  functional data  variant interpretation  MAVE
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