Author

Jared Maguire

Dovetail Genomics (United States)

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 Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:variant calling· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:genome assembly· 1

Frequent Co-Authors

Clement S. Chu· 3 shared Gregory J. Hogan· 3 shared Mark R. Theilmann· 3 shared Peter V. Grauman· 3 shared Dale MuzzeyiD· 2 shared Diana Jeon· 2 shared Genevieve M. Gould· 2 shared Hyunseok Peter KangiD· 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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3 shared papersGenetics

Clement S. Chu

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Author profile →

4 papers

Recent·Most cited

Accurate chromosome-scale haplotype-resolved assembly of human genomes

Shilpa Garg, Arkarachai Fungtammasan, Andrew W. Carroll, Mike Chou, Anthony Schmitt, Xiang Zhou, Stephen Mac, Paul Peluso, Emily Hatas, Jay Ghurye, Jared Maguire, Medhat Mahmoud, Haoyu Cheng, David Heller, Justin M. Zook, , Heng Li

This paper introduces a method for chromosome-scale haplotype-resolved genome assembly using long reads and long-range data, achieving high accuracy and contiguity in three human genomes.

bioRxiv · Jul 1, 2020 · PreprintBioinformatics

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