Claire L. Shovlin

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

The paper identifies NMD targets and a non-coding SLC11A2 exon as an acute biomarker by analyzing transcriptome changes in human endothelial cells after cycloheximide treatment.

GROFFFY filters whole genome sequence data to identify non-coding and polyadenylation site variants, improving detection of disease-causing variants in unsolved cases.

The paper analyzes whole genome sequencing data from endothelial vasculopathy patients to identify rare variants in clinically relevant genes and their association with disease severity.

The paper identifies ACE2 variants associated with SARS-CoV-2 infection risk and gender differences, finding more variant alleles in males than females.

The paper develops a filter called GROFFFY to prioritize functional genomic variants from whole genome sequencing data, reducing variant numbers while retaining clinically relevant variants.