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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.

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