Use of “Coldspot” Regions in Variant Classification

Heidi L. Rehm, Jonathan S. Berg, Lisa D. Brooks, Carlos D. Bustamante, James P. Evans, Melissa J. Landrum, David H. Ledbetter, Donna R. Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. Watson, ClinGen, None, ClinGen — The Clinical Genome Resource The New England Journal of Medicine. ,vol. 372, pp. 2235- 2242 ,(2015) , 10.1056/NEJMSR1406261

AzizN RichardsS, ACMG Laboratory Quality Assurance Committee, None, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine. ,vol. 17, pp. 405- 424 ,(2015) , 10.1038/GIM.2015.30

Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O’Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur, Exome Aggregation Consortium, Analysis of protein-coding genetic variation in 60,706 humans Nature. ,vol. 536, pp. 285- 291 ,(2016) , 10.1038/NATURE19057

Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker, ClinGen Sequence Variant Interpretation Working Group, None, Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genetics in Medicine. ,vol. 20, pp. 1054- 1060 ,(2018) , 10.1038/GIM.2017.210

Jennifer N Dines, Brian H Shirts, Thomas P Slavin, Tom Walsh, Mary-Claire King, Douglas M Fowler, Colin C Pritchard, None, Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". Genetics in Medicine. ,vol. 22, pp. 825- 830 ,(2020) , 10.1038/S41436-019-0740-6