Practice guidelines for development and validation of software, with particular focus on bioinformatics pipelines for processing NGS data in clinical diagnostic laboratories
Whiffin N., Brugger K., Ahn JW.
<jats:p>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.</jats:p>