Tara Cox Matise

FAVOR provides an online resource and tool for functional annotation of variants from whole genome sequencing studies to aid in disease gene prioritization.

GAUDI improves polygenic risk prediction in admixed populations by modeling ancestry-specific and shared effects, outperforming existing methods in simulations and real data.

The paper identifies 1,000 gene-level associations and conserved pathway associations for 25 traits across seven ancestries using enrichment analyses on large-scale GWA data.

The paper describes the role of the Centers for Mendelian Genomics in advancing gene discovery through data sharing, collaboration, and resource development over the past decade.

The paper maps and characterizes structural variants in 17,795 human genomes, revealing their frequency, impact, and relationship to gene dosage and regulatory elements.

The paper defines functional equivalence standards for genome sequencing pipelines to enable harmonized variant calling across diverse datasets with minimal batch effects.