Open access
Sep 2026
Automated GenePy gene-burden computation via a reproducible Nextflow workflow integrated with the Genomics England (GEL) Lifebit platform
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. GenePy provides an individual-level, gene-based burden metric that integrates variant consequence, allele frequency, and zygo...
Iman Nazari, Guo Cheng, J. Ashton et al.
· NAR Genomics and Bioinformat... · 0 citations