Daniel A. King

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.

This paper introduces SVCR, a scalable variant call format that reduces file size and enables efficient analysis of large genetic datasets.

CHARR estimates DNA contamination from variant-level sequencing data, offering accurate results with reduced computational costs compared to existing methods.

The paper evaluates dominance effects in over 1,000 UK Biobank phenotypes using GWAS, finding no significant dominance contribution to phenotypic variance from common variation.

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.