Tuesday March 22 Poster Session 12:00 AM – 12:00 PM (2 Posters) Oral Presentations 12:00 AM – 12:00 PM
Session PeP260 Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes Abstract Meghan Towne, Melissa Holman, Ana Bozas, Jing Zhou, Andrew Rosen, Kunal Bhatt
Session PeP354 A systematic approach for applying disease-specific phenotype in clinical variant interpretation Abstract Steven Harrison, Emily Groopman, Jennifer Goldstein, Shannon McNulty, Justyne Ross, Kelsea Chang, Jonathan Berg
Session OP036 Application of RNA sequencing evidence improves equity in variant interpretation 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