Luke O’Gorman

The paper identifies major sources of variability in iPSC-derived neurons and shows how correcting these improves disease signature detection.

FA-NIVA provides an automated analysis framework for Nanopore long-read sequencing data to detect SNVs and SVs in Fanconi anemia genes with improved genotyping accuracy.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

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.