Whole Genome Sequencing: A Considered Approach to Clinical Implementation

ArticleinCurrent protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] Chapter 9:Unit9.22 · April 2013with11 Reads
DOI: 10.1002/0471142905.hg0922s77 · Source: PubMed


    The recent entry of "whole" exome/"whole" genome sequencing into limited clinical practice has led to a progression of the availability of genome-scale testing beyond deletion/duplication copy number arrays. This unit provides a considered approach to the implementation of such testing in routine clinical practice. Specifically, we will highlight the challenges in patient selection and consent, and the technical issues surrounding test interpretation and reporting. The unit will then provide practical solutions that allow for genome-wide sequencing to be implemented in current clinical practice. Curr. Protoc. Hum. Genet. 77:9.22.1-9.22.7. © 2013 by John Wiley & Sons, Inc.

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