American Society of Human Genetics
Poster # 1073F
Friday, November 8, 2024 2:30 - 4:30pm
Elyse Ryan, Jessica Grzybowski, Devon Thrush, Daniel Kostecki, Carrie Horton. Impact of gene-disease validity on variant of unknown significance rates in hereditary cancer panels.
Poster # 3058W
Wednesday, November 6, 2024 2:30 - 4:30pm
Kelly Radtke, Meghan C. Towne, Carolyn Horton, Sheila Saliganan, Kendra Webb, Brooklynn Gasser, Kelly Hagman, Bess Wayburn, Jennifer Huang. Integrating emerging data into genomic testing: Outcomes from an evidence-based reanalysis initiative.
Poster # 6077T
Thursday, November 7, 2024 2:30 - 4:30pm
Fergus J. Couch, Huaizhi Huang, Tina Pesaran, Rachid Karam, Siddhartha Yadav, Susan M. Domchek, Alvaro N.A. Monteiro, Nicholas Boddicker, Wenan Chen, Marcy E. RIchardson, Chungling Hu. Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants.
Session # 006
Friday, November 8, 2024 2:00 - 2:15pm
Carolyn Horton, Lily Hoang, Jessica Grzybowski, Heather Zimmermann, Jesus Ramirez Castano, Sami Belhadj, Rachid Karam. Expanding the reach of paired DNA and RNA sequencing: Results from 450,000 consecutive individuals from a hereditary cancer cohort
Session # 004
Friday, November 8, 2024 1:30 - 1:45pm
Silvana Lobo, Alexandre Dias, Marta Ferreira, Jennifer Herrera-Mullar, Ana Maria Pedro, Irene Gullo, Magali Svrcek, Robert Hüneburg, Leticia Moreira, Sigrid Tinschert, Lise Boussemart, Jeremy L. Davis, Birthe Zäncker, Liselotte P. Van Hest, Kasmintan Schrader, Manuela Baptista, Jolanda M. Van Dieren, Judith Balmaña, Viviana Strong, Conxi Lazaro, Bryson Katona, Chrystelle Colas, Florence Coulet, Rachid Karam, Paulo S. Pereira, Patrick Benusiglio, Carla Oliveira. When clinical meets molecular: Why, when and how do CTNNA1 germline variants cause hereditary diffuse gastric cancer development