Hilary Finucane

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

This study identifies 389 genetic signals for age at menarche and finds BMI-independent causal links between puberty timing and cancer risks.

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

LD Hub provides a centralized database and web interface for performing LD score regression on GWAS summary data to estimate SNP heritability and genetic correlations across traits.

Subtle stratification confounds estimates of heritability from rare variants

This study shows that subtle population stratification can confound heritability estimates from rare variants, even after standard corrections, suggesting the need for better stratification control in genetic studies.

Leveraging distant relatedness to quantify human mutation and gene conversion rates

The paper quantifies human mutation and gene conversion rates using IBD segments and population history, finding higher mutation rates than pedigree-based estimates but lower than primate substitution rates.

Regulatory variants explain much more heritability than coding variants across 11 common diseases

The paper shows regulatory variants explain significantly more heritability than coding variants for 11 diseases, using imputed data across 218 cell types.