Author

Clement S. Chu

Myriad Genetics

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant calling· 4 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Assay:DNA methylation· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Mark R. Theilmann· 4 shared Dale MuzzeyiD· 3 shared Diana Jeon· 3 shared Gregory J. Hogan· 3 shared Jared Maguire· 3 shared Kevin R. Haas· 3 shared Peter V. Grauman· 3 shared Genevieve M. Gould· 2 shared

Activity by Year

2017-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetics

Mark R. Theilmann

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4 papers

Recent·Most cited

High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening

Noah C. Welker, Albert K. Lee, Rachel A. S. Kjolby, Helen Y. Wan, Mark R. Theilmann, Diana Jeon, James D. Goldberg, Kevin R. Haas, Dale Muzzey, 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.

Genetics in Medicine · Nov 14, 2020Peer-reviewedGenetic & Genomic Medicine

Detecting clinically actionable variants in the 3’ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

Genevieve M. Gould, Peter V. Grauman, Mark R. Theilmann, Lindsay Spurka, Irving E. Wang, Laura M. Melroy, Robert G. Chin, Dustin Hite, Clement S. Chu, Jared Maguire, Gregory J. Hogan, Dale Muzzey

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.

BMC Medical Genetics · Sep 29, 2018Peer-reviewedGenomics

Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identification

Gregory J. Hogan, Valentina S. Vysotskaia, Stefanie Seisenberger, Peter V. Grauman, Kyle A. Beauchamp, Kevin R. Haas, Sun Hae Hong, David Jennions, Diana Jeon, Shera Kash, H. Henry Lai, Laura M. Melroy, Mark R. Theilmann, Clement S. Chu, Saurav Guha, , 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.

Clinical Chemistry · May 14, 2018Peer-reviewedGenetics

Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment

Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, , 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.

PeerJ · Feb 23, 2017Peer-reviewedGenetics