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Jeremy Schwartzentruber

@jeremy37.bsky.social
52 followers 66 following 21 posts

Scientist at Illumina using AI methods to interpret the non-coding genome and empower new genetic association discoveries.

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Jeremy Schwartzentruber @jeremy37.bsky.social · 05/11/2025
Let’s talk about rare variant association tests - we have a new method that helps you discover more with the same data! It’s called *FlexRV* to signal our approach: “flexibly modeling rare variant pathogenicity improves gene discovery for complex traits”. www.biorxiv.org/content/10.1...
biorxiv.org
Flexibly Modeling Rare Variant Pathogenicity Improves Gene Discovery for Complex Traits
Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an appro...
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