Literature DB >> 23595600

Whole genome sequencing: a considered approach to clinical implementation.

David Dimmock1.   

Abstract

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.

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Year:  2013        PMID: 23595600     DOI: 10.1002/0471142905.hg0922s77

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN: 1934-8258


  2 in total

1.  Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.

Authors:  Julia Wynn
Journal:  J Genet Couns       Date:  2015-08-05       Impact factor: 2.537

2.  Towards identification of molecular mechanisms of short stature.

Authors:  Lindsey A Waldman; Dennis J Chia
Journal:  Int J Pediatr Endocrinol       Date:  2013-11-20
  2 in total

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