Heather Mason‐Suares

Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

A Framework for Automated Gene Selection in Genomic Screening

This paper proposes a framework for automated gene selection in genomic screening, creating gene lists with strong disease associations and demonstrating their utility in healthy genome screening.

Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk

The paper proposes a framework for classifying and reporting low-penetrance variants associated with disease risk, emphasizing data elements and criteria for clinical inclusion.

Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework

The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

The paper describes a model for returning secondary genomic findings to participants and healthcare providers in a large research cohort, with 93% successful contact rates and 222 providers notified.