Enhanced Disease Susceptible Variant Identification via Short Identity by Descent Segments.

Abstract excerpt

Rare diseases affect millions of individuals worldwide, yet diagnostic yields for them still remain low. Among variant identification approaches, identity by descent (IBD) mapping is used to identify disease susceptible variants originating from a recent common ancestor among affected individuals, but existing IBD detection models struggle to identify these variants in short IBD segments. Here, we introduce SILO,...

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