The landscape of tolerated genetic variation in humans and primates

Fri, July 7, 2023, 09:00 – 10:00AM (PDT), 12:00 – 1:00PM (EST)

Abstract: 

Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole genome sequencing data for 809 individuals from 233 primate species, and identified 4.3 million common protein-altering variants with orthologs in humans. We show that these variants can be inferred to have non-deleterious effects in humans based on their presence at high allele frequencies in other primate populations. We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the remaining 94% of variants with deep learning, achieving state-of-the-art accuracy for diagnosing pathogenic variants in patients with genetic diseases.

Speaker:

Dr. Gao obtained her Ph.D. in biostatistics and computational biology from Cornell University and received postdoctoral training in Stanford Genome Technology Center. Later she worked as Bioinformatics Scientist in Illumina and Affymetrix. Currently she is working as Assoc Principal Bioinformatics Scientist in Illumina Artificial Intelligence Lab to develop algorithms for variant interpretation. She has published multiple papers on high profile journals, including Science, Nature Genetics, and PNAS.

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