Perry Evans

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

Germline pathogenic variants in 786 neuroblastoma patients

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets

The paper introduces a disease-specific variant pathogenicity predictor trained on clinical sequencing data from cardiomyopathy, epilepsy, and RASopathies patients.

Rapid and Accurate Interpretation of Clinical Exomes Using Phenoxome: a Computational Phenotype-driven Approach

Phenoxome improves clinical exome variant prioritization by integrating phenotypic and genomic data, achieving high accuracy in identifying causative variants.

ExomeSlicer: a resource for the development and validation of exome-based clinical panels

ExomeSlicer is a web-based resource that identifies technically challenging regions in exome data, aiding in the development and validation of exome-based clinical panels.

RNA-Seq 2G: Online Analysis Of Differential Gene Expression With Comprehensive Options Of Statistical Methods

RNA-Seq 2G provides a web portal with 25 differential expression methods for RNA-seq data, showing that data distribution assumptions significantly affect results.