Sara E. Kalla

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

Celeste provides a scalable cloud infrastructure for population-scale sequencing projects, including a variant-calling pipeline optimized for clinical variant detection.

The paper assesses pharmacogenomic variation and medication exposures in a diverse cohort using whole genome sequencing and EHR data, finding high prevalence of actionable variants and previously unreported alleles.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

The paper identifies and characterizes polymorphic SINEC_Cf retrotransposons in dogs, revealing their genomic distribution and potential impact on gene expression and disease.

The paper sequenced six diverse horse breeds to identify and annotate SNPs, INDELs, CNVs, and SVs, revealing functional variants related to physiology and size.