Barney Hill

The paper develops ASO Atlas, a database of RNase H-mediated ASO sequences and their efficacy, and trains OligoAI, a deep learning model to predict ASO efficacy based on sequence and chemical features, reducing screening effort by 5.72-fold.

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

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.

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.

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