Dale Muzzey

This paper introduces a fetal-fraction amplification (FFA) method that improves the analytical performance of noninvasive prenatal screening by increasing fetal fraction in maternal cell-free DNA samples.

This study analyzes genetic ancestry in 93,419 individuals to show that ethnicity-based carrier-screening guidelines are incomplete and miss carriers in at-risk populations.

The paper evaluates the clinical validity of expanded carrier screening panels by assessing gene-disease associations for 208 conditions using the ClinGen framework, finding strong evidence for all conditions.

The paper evaluates the impact of carrier rate thresholds on expanded carrier screening panels and finds that stricter thresholds reduce at-risk couple detection.

This study evaluates the clinical impact and cost-effectiveness of a 176-condition expanded carrier screen compared to minimal screening, finding it reduces affected births and is cost-effective.

This paper develops a reflex workflow using NGS and LR-PCR to accurately detect clinically actionable variants in PMS2 exons while distinguishing them from pseudogene variants.

The paper demonstrates that software-assisted manual review of NGS data achieves equivalent accuracy to Sanger sequencing in confirming variant calls for hereditary cancer screening.

This paper validates an expanded carrier screen with high sensitivity and specificity, showing significant improvements in detecting fetal disease risk through CNV calling and challenging conditions.

The paper evaluates methods for designing expanded carrier screening panels and finds that full-exon sequencing outperforms targeted genotyping in detecting affected fetuses.

This study compares whole-genome sequencing and SNP methods for noninvasive prenatal screening at low fetal fractions, finding WGS detects more aneuploidies and avoids unnecessary invasive procedures.