Patrick Schultz

A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations

The paper presents a large reference panel of 515,579 genomes to improve rare-variant imputation across underrepresented populations, enhancing accuracy for variants with frequencies as low as 0.002%.

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes

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

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.