Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Context.--With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing--based whole-exome and whole-genome sequencing. B...

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Bibliographic Details
Published in:Archives of Pathology & Laboratory Medicine Vol. 141; no. 6; pp. 798 - 806
Main Authors: Hegde, Madhuri, Santani, Avni, Mao, Rong, Ferreira-Gonzalez, Andrea, Weck, Karen E., Voelkerding, Karl V.
Format: tables/charts Journal Article
Published: College of American Pathologists Jun2017
Online Access:View this record in EBSCOhost