AI & dataIn silico

Automated GenePy gene-burden computation via a reproducible Nextflow workflow integrated with the Genomics England (GEL) Lifebit platform

NAR Genomics and Bioinformatics

Abstract

Interpretation of rare-disease genomes remains constrained by variant-centric analytical frameworks that insufficiently capture the cumulative impact of multiple variants within a gene.

The paper

Iman Nazari, Guo Cheng, James John Ashton, Sarah A. Ennis

University of Southampton · National Institute for Health and Care Research

NAR Genomics and Bioinformatics · 28 Sep 2026 · CC BY

doi.org/10.1093/nargab/lqag113PubMed 42807677