ACMG 2022

American College of Medical Genetics and Genomics annual meeting


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Scientific Posters

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.

Oral Presentations

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

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