Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome by Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman

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P545: A plot twist: When RNA evidence challenges our expectations of DNA results by Alexandra Richardson, Terra Brannan, Colin Young, Jessica Grzybowski, Marcy Richardson, Carolyn Horton, Rachid Karam, Heather Zimmermann

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Posttranscriptional Control of the Stem Cell and Neurogenic Programs by the Nonsense-Mediated RNA Decay Pathway by Chih H. Lou, Ada Shao, Eleen Y. Shum, Josh L. Espinoza, Lulu Huang, Rachid Karam, Miles F. Wilkinson

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P074: Characterization of complex hereditary cancer associated germline variants with long read sequencing by Sami Belhadj, Felicia Hernandez, Terra Brannan, Colin Young, Jesus Ramirez Castano, Cassidy Carraway, Jessica Grzybowski, Carolyn Horton, Marcy Richardson, Rachid Karam

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An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance by Edwin S. Iversen, Gary Lipton, Steven N. Hart, Kun Y. Lee, Chunling Hu, Eric C. Polley, Tina Pesaran, Amal Yussuf, Holly LaDuca, Elizabeth Chao, Rachid Karam, David E. Goldgar, Fergus J. Couch, Alvaro N. A. Monteiro

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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay by Suzette Farber-Katz, Vickie Hsuan, Sitao Wu, Tyler Landrith, Huy Vuong, Dong Xu, Bing Li, Jayne Hoo, Stephanie Lam, Sarah Nashed, Deborah Toppmeyer, Phillip Gray, Ginger Haynes, Hsiao-Mei Lu, Aaron Elliott, Brigette Tippin Davis, Rachid Karam

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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer by Carolyn Horton, Ashley Cass, Blair R. Conner, Lily Hoang, Heather Zimmermann, Nelly Abualkheir, David Burks, Dajun Qian, Bhuvan Molparia, Huy Vuong, Holly LaDuca, Jessica Grzybowski, Kate Durda, Robert Pilarski, Jessica Profato, Katherine Clayback, Martin Mahoney, Courtney Schroeder, Wilfredo Torres-Martinez, Aaron Elliott, Elizabeth C. Chao, Rachid Karam

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P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2* by Michael Parsons, Michael Anderson, Windy Berkofsky-Fessler, Sandrine Caputo, Raymond Chan, Melissa Cline, Fergus Couch, Miguel de la Hoya, Bing-Jian Feng, David Goldgar, Encarna Gomez-Garcia, Susan Hiraki, Megan Holdren, Claude Houdayer, Paul James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen Mensenkamp, Alvaro Monteiro, Vaishnavi Nathan, Robert O'Connor, Tina Pesaran, Paolo Radice, Marcy Richardson, Gunnar Schmidt, Inge Sokilde Pedersen, Melissa Southey, Sean Tavtigian, Bryony Thompson, Amanda Toland, Emma Tudini, Clare Turnbull, Maaike Vreeswijk, Logan Walker, Lauren Zec, Amanda Spurdle

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High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals by Jeremy W. Prokop, Jeremy W. Prokop, Nicholas L. Hartog, Nicholas L. Hartog, Dave Chesla, Dave Chesla, William Faber, Chanise P. Love, Rachid Karam, Nelly Abualkheir, Benjamin Feldmann, Li Teng, Tamara McBride, Mara L. Leimanis, Mara L. Leimanis, B. Keith English, Amanda Holsworth, Austin Frisch, Jacob Bauss, Nathisha Kalpage, Aram Derbedrossian, Ryan M. Pinti, Nicole Hale, Joshua Mills, Alexandra Eby, Elizabeth A. VanSickle, Spencer C. Pageau, Rama Shankar, Rama Shankar, Bin Chen, Bin Chen, Joseph A. Carcillo, Dominic Sanfilippo, Dominic Sanfilippo, Rosemary Olivero, Rosemary Olivero, Caleb P. Bupp, Caleb P. Bupp, Surender Rajasekaran, Surender Rajasekaran, Surender Rajasekaran

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes by Tyler Landrith, Bing Li, Ashley A. Cass, Blair R. Conner, Holly LaDuca, Danielle B. McKenna, Kara N. Maxwell, Susan Domchek, Nichole A. Morman, Christopher Heinlen, Deborah Wham, Cathryn Koptiuch, Jennie Vagher, Ragene Rivera, Ann Bunnell, Gayle Patel, Jennifer L. Geurts, Morgan M. Depas, Shraddha Gaonkar, Sara Pirzadeh-Miller, Rebekah Krukenberg, Meredith Seidel, Robert Pilarski, Meagan Farmer, Khateriaa Pyrtel, Kara Milliron, John Lee, Elizabeth Hoodfar, Deepika Nathan, Amanda C. Ganzak, Sitao Wu, Huy Vuong, Dong Xu, Aarani Arulmoli, Melissa Parra, Lily Hoang, Bhuvan Molparia, Michele Fennessy, Susanne Fox, Sinead Charpentier, Julia Burdette, Tina Pesaran, Jessica Profato, Brandon Smith, Ginger Haynes, Emily Dalton, Joy Rae-Radecki Crandall, Ruth Baxter, Hsiao-Mei Lu, Brigette Tippin-Davis, Aaron Elliott, Elizabeth Chao, Rachid Karam

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