Richard S. Houlston

The paper uses CRISPRi Perturb-seq to identify 238 enhancer-gene regulatory associations in colorectal cancer and integrates chromatin data to understand their spatial organization.

The paper identifies a novel mechanism for large tandem duplications in cancer by analyzing replication fork directionality and develops a classifier to distinguish SV phenotypes based on replication features.

This study uses whole genome sequencing of endometrial cancers to identify novel subgroups, drivers, and actionable alterations, improving precision medicine approaches.

The paper identifies 121 lncRNA driver mutations across 19 cancer types using 12,631 genomes, showing mutations disrupt RNA-binding protein interactions to promote oncogenesis.

The paper identifies CCDC88C as a risk gene for ER-positive breast cancer by analyzing functional variants from GWAS signals using a massively parallel reporter assay.

This study shows that germline MUTYH haploinsufficiency increases mutational signature SBS18 and CRC risk, but not other cancers, due to oxidative DNA damage in the colorectum.

The paper develops and validates multi-ancestry polygenic risk scores for LUAD in East Asian never-smokers, showing improved risk prediction compared to East Asian-only models.

This study identifies rs3087967 as the causal variant at 11q23.1 that increases colorectal cancer risk by dysregulating POU2AF2, a key activator of tuft cell transcription.

This study uses Mendelian randomisation to identify causal risk factors for eight cancers, finding both well-established and novel molecular factors.

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.

This study identifies two genome-wide significant susceptibility loci for acute myeloid leukemia through a meta-analysis of GWAS data.

This study assesses polygenicity and risk prediction using common variants across 14 cancers, finding varying numbers of susceptibility variants and risk score effectiveness.

The paper identifies a bias in VAF estimates from the Illumina Isaac aligner and introduces FixVAF to correct it, improving cancer cell fraction analysis.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.