Recommendations for whole genome sequencing in diagnostics for rare diseases

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• dc.contributor.author Souche, Erika
• dc.contributor.author Beltran, Sergi
• dc.contributor.author Weiss, Marjan M.
• dc.date.accessioned 2022-06-17T10:32:02Z
• dc.date.available 2022-06-17T10:32:02Z
• dc.date.issued 2022
• dc.description.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.
• dc.description.sponsorship This work was supported by the Solve-RD project (European Union’s Horizon 2020 grant agreement No 779257) to MS, SB, OR and CG, and the National Centre for medical genomics (www.ncmg.cz, CZ.02.1.01/0.0/0.0/16_026/000844, LM2018132 (MSMT.cz) and 00064203/6003 (MZCR.cz) to MM). OR received financial support from Illumina for implementing whole genome sequencing into clinical diagnostics (Ge-Med project)
• dc.format.mimetype application/pdf
• dc.identifier.citation Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O et al. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 May 16. DOI:10.1038/s41431-022-01113-x
• dc.identifier.doi http://dx.doi.org/10.1038/s41431-022-01113-x
• dc.identifier.issn 1018-4813
• dc.identifier.uri http://hdl.handle.net/10230/53523
• dc.language.iso eng
• dc.publisher Springer Nature
• dc.relation.projectID info:eu-repo/grantAgreement/EC/H2020/779257
• dc.rights © Erika Souche et al 2022. 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
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri https://creativecommons.org/licenses/by/4.0/
• dc.subject.other Genòmica
• dc.subject.other Malalties rares
• dc.title Recommendations for whole genome sequencing in diagnostics for rare diseases
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion