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Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.

Clinical chemistry - 1 Sept 2022

Lansdon Lisa A, Cadieux-Dion Maxime, Herriges John C, Johnston Jeffrey, Yoo Byunggil, Alaimo Joseph T, Thiffault Isabelle, Miller Neil, Cohen Ana S A, Repnikova Elena A, Zhang Lei, Farooqi Midhat S, Farrow Emily G, Saunders Carol J

Abstract excerpt

BACKGROUND: Laboratories utilizing next-generation sequencing align sequence data to a standardized human reference genome (HRG). Several updated versions, or builds, have been released since the original HRG in 2001, including the Genome Reference Consortium Human Build 38 (GRCh38) in 2013. However, most clinical laboratories still use GRCh37, which was released in 2009. We report our laboratory's clinical...

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PMID: 35869940
DOI: 10.1093/clinchem/hvac113

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