Erin M. Ramos

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

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

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

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.

Improving reporting standards for polygenic scores in risk prediction studies

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

Clinical genetics lacks standard definitions and protocols for the collection and use of diversity measures

The paper highlights the lack of standard definitions and protocols for collecting and using race, ethnicity, and ancestry data in clinical genetics and precision medicine.

The Clinical Imperative for Inclusivity: Race, Ethnicity, and Ancestry (REA) in Genomics

The paper analyzes REA data collection practices and disparities in gnomAD, highlighting the need for standardized frameworks to improve diversity and variant interpretation in clinical genomics.

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

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