UNIT 9.22 Whole Genome Sequencing: A Considered Approach to Clinical Implementation
Published Online: 1 APR 2013
Copyright © 2013 by John Wiley & Sons, Inc.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
Dimmock, D. 2013. Whole Genome Sequencing: A Considered Approach to Clinical Implementation. Current Protocols in Human Genetics. 77:9.22:9.22.1–9.22.7.
- Published Online: 1 APR 2013
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.
- DNA testing;
- clinical implementation;
- presymptomatic prediction;
- data return;
- genetic counseling