ACMG 2021

American College of Medical Genetics and Genomics annual meeting


Research

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Scientific Posters

Poster # eP405

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract Poster

Deepali N. Shinde, Bess Wayburn, Haley Keller, Meghan C. Towne, Anant Babtiwale, Devon L. Thrush, Kelly D. Farwell Hagman, Kelly Radtke. Broad implications of sustained, proactive clinical validity curation.

Poster # eP078

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract Poster

Robert Pilarski, Stephanie Noble, Lily Hoang, Randy Hew, Stephanie Gandomi, Holly LaDuca, Jill Dolinksy. Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing.

Poster # eP075

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract Poster

Carolyn Horton, Holly LaDuca, Kristen Blanco, Min-Tzu Lo, Virginia Speare, Jill Dolinksy, Allison Kurian. Multi-gene panel testing results prompt frequent and guideline adherent changes to cancer risk management recommendations based on clinician report.

Poster # eP080

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract Poster

Carrie Horton, Kate Durda, Michelle Jackson, Marcy E. Richardson, Yuan Tian, Holly LaDuca, Kory Jasperson, Tobias Else, Amal Yussuf, Ashley Deckman. Universal multi-gene panel testing for individuals with pheochromocytomas and paragangliomas.

Oral Presentations

Session # tbd

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract

Blair R. Conner, Marcy Richardson, Terra Brannan, Felicia Hernandez, Noriko Yokoyama, Tyler Landrith, Tamara McBride, Tina Pesaran, Rachid Karam. Pathogenic duplications in tumor suppressor genes cause aberrant mRNA splicing  

Session # tbd

Tuesday, April 13, 2021 12:00 - 12:00pm Abstract

Marcy Richardson, Chunling Hu, Kun Y. Lee, Holly LaDuca, Kelly Fulk, Kate M. Durda, Ashley M. Deckman, David E. Goldgar, Rohan Gnanaolivu, Steven N. Hart, Eric C. Polley, Elizabeth Chao, Tina Pesaran, Fergus J. Couch. The uniform application of protein functional data has an impressive potential to resolve VUS rates in BRCA2

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