jaxQTL in Nature Genetics: count-based models find 16% more eGenes in single-cell eQTL

anshulkundaje · x · 2026-11-11

The Kundaje lab's jaxQTL paper is out in Nature Genetics. The framework uses highly efficient JAX-based count models (negative binomial) for pseudobulk single-cell eQTL mapping, addressing the problem that existing approaches are either not designed for sparse single-cell RNA-seq counts or become computationally intractable at scale.

In simulations, jaxQTL's negative binomial model provides calibrated inference while outperforming linear models. On the OneK1K dataset, it identifies 16% more eGenes than linear models while running substantially faster, and reveals cell-type-specific genetic regulation.

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