American College of Medical Genetics and Genomics annual meeting
Poster # eP354
Tuesday, March 22, 2022 12:00 - 12:00pm Abstract
Emily Groopman, Jennifer Goldstein, Shannon McNulty, Justyne Ross, Kelsea Chang, Steven Harrison, Jonathan Berg. A systematic approach for applying disease-specific phenotype in clinical variant interpretation.
Poster # eP260
Tuesday, March 22, 2022 12:00 - 12:00pm Abstract
Meghan Towne, Melissa Holman, Ana Bozas, Jing Zhou, Andrew Rosen, Kunal Bhatt. Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes.
Session # OP036
Tuesday, March 22, 2022 12:00 - 12:00pm Abstract
Carolyn Horton, Lily Hoang, Holly LaDuca, Min-Tzu Lo, Heather Zimmermann, Ashley Cass, Blair Conner, Nelly Abualkheir, Jessica Grzybowski, Kate Durda, Robert Pilarski, Elizabeth Chao, Rachid Karam. Application of RNA sequencing evidence improves equity in variant interpretation