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Methods Mol Biol. 2014;1168:17-29. doi: 10.1007/978-1-4939-0847-9_2.

Production and analytic bioinformatics for next-generation DNA sequencing.

Methods in molecular biology (Clifton, N.J.)

Richard James Nigel Allcock

Affiliations

  1. School of Pathology and Laboratory Medicine, University of Western Australia, M574 Stirling Highway, Nedlands, WA, 6009, Australia, [email protected].

PMID: 24870128 DOI: 10.1007/978-1-4939-0847-9_2

Abstract

The bioinformatics requirements within the clinical environment are very specific, and analytic techniques need to be fit for purpose, robust, and predictable. At the same time, the bewildering amount of information produced during these analyses needs to be carefully managed, used and interpreted correctly. The challenge for clinical laboratories now is to implement production analytical processes that are capable of handling different experimental approaches on current equipment, as well as to incorporate ways for these systems to evolve to take account of developments likely to make impacts in the near future. This is complicated by the many options available at each of the critical processing steps and a clear method needs to be developed to assemble appropriate pipelines. Here, I discuss the issues relevant to the development of an informatics pipeline that meets these criteria that should allow individual laboratories to assess their proposed strategies.

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