American Society of Human Genetics annual meeting
Poster # PB4589
Saturday, November 4, 2023 2:15 - 4:15pm Abstract Poster
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.
Poster # PB1030
Thursday, November 2, 2023 3:00 - 5:00pm Abstract Poster
Anthony Scott, Xiaoyan Jia, Grace Clark, Sajini Jayakody, Bala Burugula, Jacob Kitzman, Felicia Hernandez, Rachid Karam, Ashley P.L. Marsh, Sami Belhadj, Matthew Varga. Application of deep mutational scanning data for MLH1 variant interpretation.
Poster # PB4456
Thursday, November 2, 2023 3:00 - 5:00pm Abstract Poster
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 Abstract Poster
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 Abstract Poster
Afif Ben-Mahmoud, Vijay Gupta, Maria Irene Scarano, Saskia M. Maas, Marielle Alders, Isabelle Rouvet, Emilia K. Bijlsma, Meghan Towne, 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, 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 Abstract Poster
Emily AW Nadeau, Cristina Rioja, Marta Pineda, Monica Thet, Andreas Laner, Daniel Buchanan, Jesús del Valle, Ester Borras, Felicia Hernandez, Chris Heinen, Ian Frayling, Khalid Mahmood, Matthew Johnson, Peter Georgeson, Rhianna Urban, Sheila David, Susan Farrington, Thomas van Overeem Hansen, Wei Shen, Xuemei Shi, Sherry Yin, Deborah Ritter, Pilar Mur, Isabel Quintana, Andrew Latchford, Finlay Macrae, Sean Tavtigian, Gabriel Capellá, Marc Greenblat. 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 Abstract Poster
Kevin Riehle, Andrew R. Jackson, Neethu Shah, Arturo Alejandro Zuniga, Tierra Farris, Anton Kodochygov, Keyang Yu, Aleksandar Mihajlović, Boško Jevtić, Miroslav Milinkov, Nevena Vučinić, Novak Martinović, Dubravka Jevtić, Matt W. Wright, Christine G. Preston, Mark E. Mandell, Gloria Chueng, Deborah I. Ritter, Jessie Arce, Vi Dang, Garret Noble, Steven Harrison, Alicia Byrne, Danielle Azzariti, Erin Riggs, Marina DiStefano, Lawrence Babb, Kyle Ferriter, Elizabeth McCormick, Xiaowu Gai, Lishuang Shen, Marni J Falk, Alex Wagner, Jeremy Arbesfeld, Melissa Cline, Alan F. Rubin, Obi Griffith, Malachi Griffith, Teri E. Klein, Sharon E. Plon, Aleksandar Milosavljevic. Building the ClinGen Pathogenicity Calculator Version 2.0 by leveraging ClinGen API Microservices.
Poster # PB3395
Friday, November 3, 2023 3:00 - 5:00pm Abstract Poster
Hoda Mirsafian, Heather Zimmermann, Laura Hudish, Sami Belhadj, Donavan Cheng, Elizabeth Chao, Rachid Karam, 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.
Session # Abstract: 2023-A-2430-ASHG
Saturday, November 4, 2023 10:30 - 10:45am Abstract
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