Article

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

2017-05-29

Abstract excerpt

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 t...

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Literature Corpus work: 52ad33ee-5a8a-5628-b075-099b962f6e3c
DOI: 10.7287/peerj.preprints.2996v1

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