Rapid genome sequencing for pediatrics

Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V. and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2022. Rapid genome sequencing for pediatrics. Human Mutation: Variation, Informatics and Disease 43 (11) , pp. 1507-1518. 10.1002/humu.24466

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Abstract

The advancements made in next‐generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed application of rapid NGS techniques, used to diagnose pediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines, and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high‐priority patients.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Additional Information:	License information from Publisher: LICENSE 1: URL: http://creativecommons.org/licenses/by/4.0/
Publisher:	Wiley
ISSN:	1059-7794
Date of First Compliant Deposit:	26 September 2022
Date of Acceptance:	6 September 2022
Last Modified:	04 May 2023 12:22
URI:	https://orca.cardiff.ac.uk/id/eprint/152857

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