Gareth Hawkes

The paper estimates whole-genome heritability of complex traits across diverse populations, finding rare and non-coding variants significantly contribute to heritability.

AlphaGenome Atlas predicts regulatory effects of non-coding variants across the human genome, improving their prioritization and interpretation.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

The paper uses a federated approach to conditionally analyze genetic variants across biobanks, identifying LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation.

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

The paper reduces error rates in population-scale whole-genome sequencing by applying genotype-level quality control, demonstrating its effectiveness using UK Biobank and All of Us datasets.

The paper introduces vcf2agds, a toolkit converting WGS data to aGDS format, enabling efficient analysis of UK Biobank data and identifying 480 genome-wide significant associations for total cholesterol.

This study performs a genome-wide association study of T1D stratified by HLA DR3 and DR4 status, revealing genetic and biological heterogeneity in T1D progression.

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

The paper identifies clustering patterns of loss-of-function variants in monogenic disease genes, linking them to incomplete penetrance and suggesting localized constraint metrics for variant interpretation.

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

The paper identifies individuals deviating from genetically predicted phenotypes using UK Biobank data and shows they are enriched for rare genetic variants and clinical conditions.

This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

This paper identifies a genetic association between NK3R (TACR3) and menopausal vasomotor symptoms (VMS) using GWAS, while finding no link between rare NK3R variants and VMS despite the efficacy of NK3R antagonists.