Madhuri Hegde

The paper examines motivations and outcomes of elective genomic sequencing across research, clinical, and commercial contexts, finding most participants found results medically important but few shared them with healthcare providers.

The paper describes international workshops training variant scientists on the ClinGen Variant Curation Interface (VCI) and reports on its usage and costs.

This study validates rolling circle replication (RCR) technology for non-invasive prenatal testing, showing high sensitivity and specificity for detecting fetal trisomies.