Riley H. Grant

The Global Parkinson's Disease Genetics (GP2) Genome Browser

The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.

The Power of Partnership: Democratizing Genetic Prevalence to Empower Patient Advocacy

The paper estimates genetic prevalence for 22 autosomal recessive conditions using gnomAD data and develops a tool to democratize these calculations, highlighting the dynamic nature of prevalence estimates.

Integrating 730,947 exome sequences with clinical literature improves gene discovery

gnomAD v4 (730,947 exomes) brings LOFTEE-2 loss-of-function annotation (0.90 precision, strict mode), missense-aware constraint, and LLM-mined literature evidence combined with constraint to rank disease genes.

The landscape of regional missense mutational intolerance quantified from 730,947 exomes

The paper quantifies regional missense mutational intolerance using 730,947 exomes to identify constrained gene regions and improve variant interpretation.

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.