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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 Preprints5:e2996v1https://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.