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Beyond BA1 and PM2, Applications of gnomAD data in rare disease

LEARNING OBJECTIVE #1: Appreciate the applications of phased rare variation in gnomAD

LEARNING OBJECTIVE #2: Understand how to use allele frequencies to estimate genetic prevalence

LEARNING OBJECTIVE #3: Examine how the makeup of gnomAD impacts the interpretation of these estimates

Speaker #1: Katherine Chao, BS, is a Software Product Manager at the Broad Institute, where she works on methods development using gnomAD. She is the co-product owner for gnomAD and leads the production of future gnomAD releases and manages the roadmap for future work.

Speaker #2: Samantha Baxter is the associate director of genetic and genomic data sharing, and a genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group (TGG) at the Broad Institute of MIT and Harvard. She is the operations manager and council member for gnomAD, she co-chairs the policy working group for the GREGoR Consortium, and she leads the TGG’s variant curation team. As part of Baxter’s ongoing research, in partnership with Chan Zuckerberg’s Rare As One network, she uses various curation and gnomAD allele frequencies to estimate the prevalence of rare disease in the global population. Her work has a strong focus on data modeling, scaling processes for data sharing, and most importantly partnering with patient advocacy groups to improve genomic research.

May 3, 2023 01:00 PM in Central Time (US and Canada)