Author

Lindsay Spurka

ORCID 0000-0002-4433-3865Unclaimed 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· 2 Research Focus:variant calling· 2 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Clement S. Chu· 2 shared Genevieve M. Gould· 2 shared Gregory J. Hogan· 2 shared Jared Maguire· 2 shared Mark R. Theilmann· 2 shared Peter V. Grauman· 2 shared Alex D. Robertson· 1 shared Dale MuzzeyiD· 1 shared

Activity by Year

2017-2018 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenomics

Clement S. Chu

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2 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

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GeneticsPeerJPeer-reviewedFeb 23, 2017

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

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.

21 citations

humanwhole-exome sequencing

𝕏 PostBluesky