Mark N. Kvale

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

The paper evaluates how parameter choices affect variant interpretation pipelines by systematically perturbing parameters and shows that certain choices significantly impact sensitivity and specificity.