Samvida S. Venkatesh

The paper identifies rare damaging variants in genes associated with misaligned phenotypes using polygenic scores and enrichment analysis in the UK Biobank.

The paper identifies genes associated with obesity and fat distribution using genetic and functional data, then validates their roles through CRISPR knockdown in cell lines.

CREST-GV prioritizes disease-relevant cell types by analyzing genetic variants intersecting open chromatin regions across hundreds of cell types.

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

This study identifies 66 genetic variants linked to neuroendocrine structure volumes and links some to testosterone levels using UK Biobank data.

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

The paper identifies compound heterozygous variants in UK Biobank data and shows their phenotypic impact on common diseases using statistical phasing and mixed models.

This study uses Mendelian randomisation to investigate the causal effects of obesity on female reproductive conditions, finding that central obesity and metabolic hormones mediate these associations.