Author

Dustin Hite

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Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Clement S. Chu· 1 shared Dale MuzzeyiD· 1 shared Genevieve M. Gould· 1 shared Gregory J. Hogan· 1 shared Irving E. Wang· 1 shared Jared Maguire· 1 shared Laura M. MelroyiD· 1 shared Lindsay SpurkaiD· 1 shared

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2018-2018 · peak 1/yr

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1 shared paperGenomics

Clement S. Chu

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1 paper

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

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