Recommendations for whole genome sequencing in diagnostics for rare diseases

Abstract

In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.

Metadata

Item Type:	Article
Authors/Creators:	Souche, E. Beltran, S. Brosens, E. Belmont, J.W. Fossum, M. Riess, O. Gilissen, C. Ardeshirdavani, A. Houge, G. van Gijn, M. Clayton-Smith, J. Synofzik, M. de Leeuw, N. Deans, Z.C. Dincer, Y. Eck, S.H. van der Crabben, S. Balasubramanian, M. https://orcid.org/0000-0003-1488-3695 Graessner, H. Sturm, M. Firth, H. Ferlini, A. Nabbout, R. De Baere, E. Liehr, T. Macek, M. Matthijs, G. Scheffer, H. Bauer, P. Yntema, H.G. Weiss, M.M.
Copyright, Publisher and Additional Information:	© The Author(s) 2022. Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
Keywords:	Medical genetics; Next-generation sequencing
Dates:	Published: September 2022 Published (online): 16 May 2022 Accepted: 21 April 2022
Institution:	The University of Sheffield
Academic Units:	The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield) The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User:	Symplectic Sheffield
Date Deposited:	31 May 2022 11:02
Last Modified:	05 Jan 2023 11:59
Status:	Published
Publisher:	Springer Nature
Refereed:	Yes
Identification Number:	10.1038/s41431-022-01113-x
Related URLs:	PubMed URL
Open Archives Initiative ID (OAI ID):	oai:eprints.whiterose.ac.uk:187457

Download

Published Version

Filename: s41431-022-01113-x.pdf

Licence: CC-BY 4.0

CLICK TO DOWNLOAD

CORE (COnnecting REpositories)

Recommendations for whole genome sequencing in diagnostics for rare diseases

Abstract

Metadata

Download

Published Version

Export

Statistics