William J. Metcalf

Combining rare and common genetic variants improves population risk stratification for breast cancer

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

Genome-wide rare variant analysis for thousands of phenotypes in 54,000 exomes

The paper analyzes rare variants in 54,000 exomes across 3,166 phenotypes, identifying 78 gene-based associations with significant effects on human traits.

A Comprehensive Genome-wide and Phenome-wide Examination of BMI and Obesity in a Northern Nevadan Cohort

This study uses EHR and genetics to perform GWAS and PheWAS on BMI and obesity, identifying known and novel variants and phenotypic associations.

GWAS and PheWAS of Red Blood Cell Components in a Northern Nevadan Cohort

This study performs GWAS and PheWAS on red blood cell components in a Northern Nevadan cohort, identifying genetic associations and linking SNPs to phenotypic diagnoses.

Population Health Genetic Screening for Tier 1 Inherited Diseases in Northern Nevada: 90% of At-Risk Carriers are Missed

The paper finds that 90% of carriers of inherited disease variants are missed in current medical practice, highlighting the need for population-based genetic screening.