Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories
- Subject Areas
- Bioinformatics, Genomics, Science Policy
- bioinformatics, best practise, genomics, diagnostics, clinical, genetics, NGS, software development, validation
- © 2017 Whiffin et al.
- 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
- 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 https://doi.org/10.7287/peerj.preprints.2996v1
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.
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.