Alison J. Coffey

The paper provides guidance for classifying variants in snRNA genes and introduces RNUdb, a tool to support variant annotation and classification.

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

This paper develops a genome-wide cardiovascular disease genetic risk assessment test that includes monogenic conditions, risk alleles, pharmacogenomic variants, and polygenic risk scores, showing high performance and scalability.

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.