ASHG 2023

Poster # PB1030

Thursday, November 2, 2023 3:00 - 5:00pm

Felicia Hernandez, Rachid Karam, Ashley Marsh, Sami Belhadj, Matthew Varga, Anthony Scott, Xiaoyan Jia, Grace Clark, Sajini Jayakody, Bala Burugula, Jacob Kitzman. Application of deep mutational scanning data for MLH1 variant interpretation.

Poster # PB4456

Thursday, November 2, 2023 3:00 - 5:00pm

Steven Harrison, M. Wright, C. Preston, G. Cheung, M. Mandell, B. Wulf, L. Babb, M. DiStefano, C. Klein, R. Shapira, I. Keseler, D. Ritter, N. Shah, K. Riehle, A. Milosavljevic, S. Plon, T. Klein. Batch ClinVar Submission Support in ClinGen's Variant Curation Interface (VCI).

Poster # PB5020

Thursday, November 2, 2023 3:00 - 5:00pm

Jennifer Herrera-Mullar, Meghan C. Towne, Carolyn Horton, Amybeth Weaver, Jennifer M. Huang, Devon Lamb Thrush, Kelly Radtke, Bess Wayburn. Do candidate genes increase clinical utility of hereditary cancer panels? When less is more.

Poster # PB4908

Thursday, November 2, 2023 3:00 - 5:00pm

Meghan Towne, Afif Ben-Mahmoud, Vijay Gupta, Maria Irene Scarano, Saskia M. Maas, Marielle Alders, Isabelle Rouvet, Emilia K. Bijlsma, Lilian L Cohen, Solveig Heide, Boris Keren, Kristina Sorensen, Aia Elise Jonch, Tova Hershkovitz, Owens Josh, Seong-In Hyun, Joe Farris, Ahmad Abou Tayoun, Diego Lopergolo, Dmitriy Niyazov, Jennifer Jacober, Vanda McNiven, Fung Charlotte, and Hyung-Goo Kim. Splice Mutations and Digital Anomalies Extend the Genotypic and Phenotypic Spectrum of Kim-Gusella Syndrome in PHF21A Patients.

Poster # PB5158

Thursday, November 2, 2023 3:00 - 5:00pm

Felicia Hernandez, Matthew Johnson, E. Nadeau, C. Rioja, M. Pineda, M. Thet, A. Laner, D. Buchanan6, J. Del Valle, E. Borras, C. Heinen, I. Frayling, K. Mahmood, P. Georgeson, R. Urban, S. David, S. Farrington, T. Hansen, W. Shen, X. Shi, S. Yin, D. Ritter, P. Mur, I. Quintana, A. Latchford, F. Macrae, S. Tavtigian, G. Capellá, M. Greenblatt. The ClinGen-InSiGHT MUTYH Variant Curation Expert Panel: Lessons learned and a call to action.

Poster # PB4460

Friday, November 3, 2023 3:00 - 5:00pm

Steven Harrison, K. Riehle, A. R. Jackson1, N. Shah, A. A. Zuniga, T. Farris, A. Kodochygov, K. Yu1, A. Mihajlović, B. Jevtić, M. Milinkov, N. Vučinić, D. Jevtić, N. Martinović, M. Wright, C. Preston, M. Mandell, G. Cheung, D. Ritter, J. Arce, V. Dang1, G. Noble, A. Byrne, D. Azzariti, E. Riggs, M. DiStefano, L. Babb, K. Ferriter, E. McCormick, X. Gai, L. Shen, M. Falk, A. Wagner, J. Arbesfeld, M. Cline, A. F. Rubin, O. Griffith, M. Griffith, T. Klein, S. Plon, A. Milosavljevic. Building the ClinGen Pathogenicity Calculator Version 2.0 by leveraging ClinGen API Microservices.

Poster # PB3395

Friday, November 3, 2023 3:00 - 5:00pm

Hoda Mirsafian, Heather Zimmermann, Laura Hudish, Sami Belhadj, Elizabeth Chao, Rachid Karam, Donavan Cheng, Matthew Schultz. High-throughput Allele-Specific Expression Analysis Can Detect Allelic Imbalance in Clinical Patient Samples as a Proxy for Quantitative Measures of Gene Expression.

Poster # PB4589

Saturday, November 4, 2023 2:15 - 4:15pm

Elizabeth Chao, Carrie Horton, Jill Dolinsky, Amal Yussuf, T. Drivas, A. Safonov, T. Nomakuchi, Z. Bogus, M. Bonanni, A. Raper, M. Ritchie, S. Kallish, K. Nathanson. A genotype-first approach identifies high incidences of NF1 pathogenic variants with distinct disease associations.

Session # Abstract: 2023-A-2430-ASHG

Saturday, November 4, 2023 10:30 - 10:45am

Rachid Karam, MD, PhD. Expanding the clinical reach of RNA sequencing: Evaluating testing outcomes of concurrent germline DNA and RNA genetic testing in a cohort of 43,000 individuals undergoing hereditary cancer testing