Katherine C. Tashman

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

The paper introduces a method to prioritize causal genes for complex traits by integrating GWAS data with gene expression and biological data, achieving high precision in gene-trait pair identification.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

A data harmonization pipeline to leverage external controls and boost power in GWAS

This paper presents a data harmonization pipeline for GWAS that improves power by integrating external controls and reduces batch effects, demonstrating its effectiveness in a Crohn's disease study.

Significance testing for small annotations in stratified LD-Score regression

The paper shows that S-LDSC's significance testing fails for small annotations, leading to inflated type 1 error, and proposes thresholds to control this error.

The mutational constraint spectrum quantified from variation in 141,456 humans

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.