Reuben J. Pengelly

This study uses wavelet analysis to show that recombination rates vary significantly between human populations, especially at fine scales, suggesting population-specific maps are needed for accurate genetic analyses.

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

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.