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Nat Rev Genet. 2017 Aug;18(8):473-484. doi: 10.1038/nrg.2017.44. Epub 2017 Jun 19.

Reference standards for next-generation sequencing.

Author information

1
Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
2
St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia.
3
School of Biotechnology &Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia.
4
Altius Institute for Biomedical Sciences, Seattle, Washington 98121, USA.

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.

PMID:
28626224
DOI:
10.1038/nrg.2017.44
[Indexed for MEDLINE]

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