Karen A. Schlauch

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

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

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.

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.