American College of Medical Genetics and Genomics annual meeting
Poster # tbd
Wednesday, March 18, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Marina T. DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Ozge Ceyhan-Birsoy, Carol Bocchini, Elspeth Bruford, Alison Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Paul Denny, Helen Firth, David Fitzpatrick, Rebecca E. Foulger, Jenny Goldstein, Ada Hamosh, Matthew Hurles, Sarah E. Leigh, Ivone U.S. Leong, Antoine Marmignon, Christa L. Martin, Kalotina Machini, Ellen M. McDonagh, Annie Olry, Kelly Radtke, Erin M. Ramos, Erin Rooney Riggs, Charlotte Rodwell, Zornitza Stark, Jackie Tahiliani, James S. Ware, Eleanor Williams, Caroline Wright, Heidi L. Rehm. Creating an open-source gene curation database from the Gene Curation Coalition (GenCC).
Poster # tbd
Wednesday, March 18, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Kirsten Blanco, Catherine Schultz, Meghan Towne. Diagnostic exome sequencing in adults with neurological disorders.
Poster # tbd
Wednesday, March 18, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Kelly Farwell Hagman, Meghan Towne, Kelly Radtke, Kirsten Blanco, Jennifer Huang. Exome reanalysis results in an 8% reclassification rate.
Poster # tbd
Wednesday, March 18, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Elizabeth Chao, Chantal Kelly. Genetic testing utilization management: Saving time, saving money, and maximizing clinical utility for patients - a commercial lab experience.
Poster # tbd
Wednesday, March 18, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Donald Basel, Carrie Horton, Rachid Karam, Holly LaDuca, Jessica Profato. Practical applications of RNA genetic testing for variant detection and interpretation: A case series.
Poster # tbd
Friday, May 1, 2020 10:00 - 12:00pm Abstract Poster ACMG Web
Amanda Jacquart, Stefano Rosati, Jessica Grzybowski, Michael Muriello. Identification of an Alu insertion in MSH2 by next-generation sequencing in a family with Lynch syndrome: An 8-year diagnostic odyssey.
Session # tbd
Wednesday, March 18, 2020 4:00 - 4:15pm Abstract ACMG Web
William D. Foulkes. Predicted truncating variants in SMARCA4 may be innocent: The importance of multi-institutional collaboration
Ambry
Friday, May 1 | 7:00am