Erin Rooney Riggs

The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

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

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.

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.