Sarah Ennis

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

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

SMART annotates and reports somatic mutations in cancer genomics by integrating OncoKB and other databases into a VCF-based workflow with three-tier transcript prioritisation.

GAE-Δ uses a graph autoencoder to analyze multi-omics data and predict clinical outcomes while identifying gene network rewiring associated with cancer progression.

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.

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

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.

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

The paper compares a panel-agnostic variant filtering approach (HiPPo) with a gene panel-based strategy in exome and genome data from NHS patients, finding HiPPo identifies more diagnostic variants with fewer assessments.

The paper introduces DeNovoLOEUF, a method to identify diagnostic variants in genome sequencing data, achieving 96% positive predictive value and uncovering 39 missed diagnoses in the 100,000 Genomes Project.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

GenePy estimates gene-level pathogenicity from whole-exome sequencing data by combining mutational burden and biological impact, demonstrating improved sensitivity in identifying causal genes in common diseases.