Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories

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1 National Heart and Lung Institute, Imperial College London, London, United Kingdom
2 MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom
3 Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom
4 Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
5 Genetics Laboratories, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom
DOI
10.7287/peerj.preprints.2996v1
Published
Accepted
Subject Areas
Bioinformatics, Genomics, Science Policy
Keywords
bioinformatics, best practise, genomics, diagnostics, clinical, genetics, NGS, software development, validation
Copyright
© 2017 Whiffin et al.
Licence
This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, reproduction and adaptation in any medium and for any purpose provided that it is properly attributed. For attribution, the original author(s), title, publication source (PeerJ Preprints) and either DOI or URL of the article must be cited.
Cite this article
Whiffin N, Brugger K, Ahn JW. 2017. Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories. PeerJ Preprints 5:e2996v1

Abstract

Clinical bioinformatics is an emerging field in diagnostic genetics laboratories that are harnessing next-generation sequencing technologies to improve patient care. This document provides guidance for the development and validation of software used for delivery of clinical genetics, focusing on bioinformatics pipelines for next-generation sequencing (NGS) applications. It builds on the literature and guidelines that already exist around software development and validation of clinical genetics diagnostic tests, to detail best practice specific to a clinical bioinformatician’s role.

Author Comment

This document is intended to inform best practise for clinical bioinformaticians working within clinical genetics laboratories. It has been developed under the oversight of the Association of Clinical Genomic Science.