Author

Joshua S. Paul

Invitae (United States)ORCID 0000-0001-9616-5659Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chiao‐Feng LiniD· 1 shared Heidi L. RehmiD· 1 shared Justin M. ZookiD· 1 shared Marc SalitiD· 1 shared Matthew S. LeboiD· 1 shared Rebecca TrutyiD· 1 shared Robert Luke NussbaumiD· 1 shared Stephen E. LincolniD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

9 top collaborators · 36 mutual co-author links

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1 shared paperGenetics

Chiao‐Feng LinORCID

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1 paper

Recent·Most cited

GeneticsJournal of Molecular DiagnosticsPeer-reviewedJan 2, 2019

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

Stephen E. Lincoln, Rebecca Truty, Chiao‐Feng Lin…·Matthew S. Lebo

The paper examines the need for orthogonal confirmation of NGS-detected variants in clinical testing and develops criteria to identify false positives with high accuracy.

71 citationstop 4%

whole-exome sequencingstatistical model

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