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Reference standards for next-generation sequencing

Abstract

Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is being readily applied for the diagnosis of disease-associated genetic features. However, the interpretation of NGS data remains challenging owing to the size and complexity of the genome and the technical errors that are introduced during sample preparation, sequencing and analysis. These errors can be understood and mitigated through the use of reference standards - well-characterized genetic materials or synthetic spike-in controls that help to calibrate NGS measurements and to evaluate diagnostic performance. The informed use of reference standards, and associated statistical principles, ensures rigorous analysis of NGS data and is essential for its future clinical use.

Type Journal
ISBN 1471-0064 (Electronic) 1471-0056 (Linking)
Authors Hardwick, S. A.; Deveson, I. W.; Mercer, T. R.
Responsible Garvan Author Dr Timothy Mercer
Publisher Name NATURE REVIEWS GENETICS
Published Date 2017-08-31
Published Volume 18
Published Issue 8
Published Pages 473-484
Status Published in-print
DOI 10.1038/nrg.2017.44
URL link to publisher's version https://www.ncbi.nlm.nih.gov/pubmed/28626224