The paper uses GenePy scores and clustering to identify genetic clusters in IBD patients, finding NOD2 and NLRP1 as significant drivers with phenotypic associations.

DOI 10.64898/2026.10.05.754100

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNAR Genomics and BioinformaticsPeer-reviewedSep 15, 2026

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

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

GenePy computes gene-level burden scores using variant data to improve diagnostic strategies for rare diseases through automated, scalable workflows.

DOI 10.1093/nargab/lqag113

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 19, 2024

Moving from GWAS signals to rare functional variation in inflammatory bowel disease through application of GenePy2 as a potential DNA biomarker

Guo Cheng, James John Ashton, Andrew R Collins…·Sarah Ennis

This paper applies GenePy2.0 to identify genomic biomarkers in IBD by analyzing GWAS signals and detecting risk/protective variants in large cohorts.

DOI 10.1101/2024.04.19.24306093

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 18, 2024

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project

Eleanor G. Seaby, Gary Leggatt, Guo Cheng…·Magdalena Zarowiecki

GenePy identifies potential missed biallelic diagnoses in the 100KGP by scoring variants and analyzing phenotypic overlaps, finding 14% of undiagnosed participants may have a missed diagnosis.

8 citations

humanwhole-exome sequencing

𝕏 PostBluesky