Author

Laura M. Melroy

ORCID 0000-0003-4335-7088Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Dale MuzzeyiD· 3 shared Clement S. Chu· 2 shared Gregory J. Hogan· 2 shared Hyunseok Peter KangiD· 2 shared Jared Maguire· 2 shared Kevin R. Haas· 2 shared Mark R. Theilmann· 2 shared Peter V. Grauman· 2 shared

Activity by Year

2018-2018 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenomics

Dale MuzzeyORCID

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3 papers

Recent·Most cited

GenomicsBMC Medical GeneticsPeer-reviewedSep 29, 2018

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…·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.

27 citations

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintSep 23, 2018

Software-assisted manual review of clinical NGS data:an alternative to routine Sanger sequencing confirmationwith equivalent results in >15,000 hereditary cancer screens

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.

2 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsClinical ChemistryPeer-reviewedMay 14, 2018

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…·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.

71 citationstop 3%

humanwhole-exome sequencing

𝕏 PostBluesky