Bradford C. Powell

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

This paper describes the co-creation of public health educational materials and dissemination plans to improve genetic literacy and equity in genomics research and practice.

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.

The paper evaluates how ClinGen Variant Curation Expert Panels (VCEPs) use functional assay evidence in variant classification, finding variability in assay selection and validation parameters.