Hana Zouk

The paper estimates penetrance of disease variants in genes prioritized for genomic newborn screening using adult biobank data, finding higher penetrance than ICD codes suggest.

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 analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

The paper validates genetic sex using a 96-SNP PCR panel to track samples in clinical testing and identify inconsistencies.

This study evaluates the feasibility and costs of returning actionable genomic results from a biobank, finding high false positive rates in genotyping and significant under-testing among at-risk individuals.

This paper describes the implementation of HL7 FHIR standards for representing clinical genomics results in the eMERGE Networks, improving interoperability for genetic data management.