Recommendations for whole genome sequencing in diagnostics for rare diseases.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
received:
23
12
2021
accepted:
21
04
2022
pubmed:
17
5
2022
medline:
9
9
2022
entrez:
16
5
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35577938
doi: 10.1038/s41431-022-01113-x
pii: 10.1038/s41431-022-01113-x
pmc: PMC9437083
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1017-1021Subventions
Organisme : Medical Research Council
ID : MR/V037307/1
Pays : United Kingdom
Informations de copyright
© 2022. The Author(s).
Références
Genome Res. 2017 Nov;27(11):1895-1903
pubmed: 28887402
Eur J Hum Genet. 2016 Nov;24(11):1584-1590
pubmed: 27165007
Nature. 2014 Jul 17;511(7509):344-7
pubmed: 24896178
Eur J Hum Genet. 2022 Sep;30(9):1011-1016
pubmed: 35361922
Am J Hum Genet. 2019 Oct 3;105(4):719-733
pubmed: 31564432
Hum Mutat. 2013 Oct;34(10):1313-21
pubmed: 23776008
Nature. 2020 Jul;583(7814):96-102
pubmed: 32581362
Eur J Hum Genet. 2014 Feb;22(2):160-70
pubmed: 23942201
Eur J Hum Genet. 2016 Jan;24(1):2-5
pubmed: 26508566
Genome Biol. 2019 Dec 19;20(1):291
pubmed: 31856913
Genet Med. 2020 Jul;22(7):1254-1261
pubmed: 32313153