Author
Myriad Genetics
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
4 papers
Recent·Most cited
Noah C. Welker, Albert K. Lee, Rachel A. S. Kjolby…·Clement S. Chu
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.
Dale Muzzey, Shera F. Kash, Jillian I. Johnson…·Kevin R. Haas
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.
Gregory J. Hogan, Valentina S. Vysotskaia, Stefanie Seisenberger…·Dale Muzzey
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.
Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould…·Imran S. Haque
The paper develops and validates a 36-gene sequencing assay for hereditary cancer risk assessment, showing 100% sensitivity and high specificity across mutation types.