Article

Automated GenePy Gene-Burden Computation via a Reproducible Nextflow Workflow Integrated with the Genomics England (GEL) Lifebit Platform

2026-05-24

Abstract excerpt

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 zygosity into a unified quantitative score, enabling a transition from discrete variant annotation to aggregat...

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Literature Corpus work: 95c176de-7336-5063-add8-5f9409011ebd
DOI: 10.64898/2026.05.22.26353863

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