Fiona M Cunningham

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

EyeG2P improves diagnostic genomic testing efficiency for inherited ophthalmic disorders by increasing precision while maintaining high sensitivity.

The paper defines a standard format for GWAS summary statistics to improve data sharing and analysis.

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.

VEP-G2P filters genomic variants for diagnostic purposes, showing higher sensitivity but lower precision for de novo and inherited variants, with significant background noise in controls.

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.