ASHG 2023

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.