Abstract
Original language | English |
---|---|
Pages (from-to) | 1017-1021 |
Number of pages | 5 |
Journal | European journal of human genetics |
Volume | 30 |
Issue number | 9 |
Early online date | 2022 |
DOIs | |
Publication status | Published - Sept 2022 |
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In: European journal of human genetics, Vol. 30, No. 9, 09.2022, p. 1017-1021.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Recommendations for whole genome sequencing in diagnostics for rare diseases
AU - Souche, Erika
AU - Beltran, Sergi
AU - Brosens, Erwin
AU - Belmont, John W.
AU - Fossum, Magdalena
AU - Riess, Olaf
AU - Gilissen, Christian
AU - Ardeshirdavani, Amin
AU - Houge, Gunnar
AU - van Gijn, Marielle
AU - Clayton-Smith, Jill
AU - Synofzik, Matthis
AU - de Leeuw, Nicole
AU - Deans, Zandra C.
AU - Dincer, Yasemin
AU - Eck, Sebastian H.
AU - van der Crabben, Saskia
AU - Balasubramanian, Meena
AU - Graessner, Holm
AU - Sturm, Marc
AU - Firth, Helen
AU - Ferlini, Alessandra
AU - Nabbout, Rima
AU - de Baere, Elfride
AU - Liehr, Thomas
AU - Macek, Milan
AU - Matthijs, Gert
AU - Scheffer, Hans
AU - Bauer, Peter
AU - Yntema, Helger G.
AU - Weiss, Marjan M.
N1 - Funding Information: We thank the participants of the first expert meeting (in Leiden) who discussed aspects of NGS and diagnostics with the writing group and helped drafting the recommendations: Marijke Bauters, Johan den Dunnen. We thank the EBMG and ESHG board members for providing constructive comments. The following ERNs were represented: immunodeficiency, autoinflammatory and autoimmune diseases (ERN RITA, Framework Partnership Agreement No 739535) by MvG, Rare Neurological Diseases (ERN RND, Framework Partnership Agreement No 739510) by HG (coordinator) and Ludger Schöls, eye diseases (ERN EYE, Framework Partnership Agreement No 739534) by EDB, rare inherited and congenital (digestive and gastrointestinal) anomalies (ERN ERNICA) by EB, rare urogenital diseases and complex conditions (ERN eUROGEN, Grant No 831386) by MF, genetic tumour risk syndromes (ERN GENTURIS) by Nicoline Hoogerbrugge, neuromuscular diseases (ERN NMD, Framework Partnership Agreement No 739536) by AF, congenital malformations and rare intellectual disability (ERN ITHACA) by JCS, rare bone diseases (ERN BOND) by MB and rare and complex epilepsies (ERN EpiCARE) by RN. Funding Information: 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). Funding Information: We thank the participants of the first expert meeting (in Leiden) who discussed aspects of NGS and diagnostics with the writing group and helped drafting the recommendations: Marijke Bauters, Johan den Dunnen. We thank the EBMG and ESHG board members for providing constructive comments. The following ERNs were represented: immunodeficiency, autoinflammatory and autoimmune diseases (ERN RITA, Framework Partnership Agreement No 739535) by MvG, Rare Neurological Diseases (ERN RND, Framework Partnership Agreement No 739510) by HG (coordinator) and Ludger Schöls, eye diseases (ERN EYE, Framework Partnership Agreement No 739534) by EDB, rare inherited and congenital (digestive and gastrointestinal) anomalies (ERN ERNICA) by EB, rare urogenital diseases and complex conditions (ERN eUROGEN, Grant No 831386) by MF, genetic tumour risk syndromes (ERN GENTURIS) by Nicoline Hoogerbrugge, neuromuscular diseases (ERN NMD, Framework Partnership Agreement No 739536) by AF, congenital malformations and rare intellectual disability (ERN ITHACA) by JCS, rare bone diseases (ERN BOND) by MB and rare and complex epilepsies (ERN EpiCARE) by RN. Publisher Copyright: © 2022, The Author(s).
PY - 2022/9
Y1 - 2022/9
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85130191786&partnerID=8YFLogxK
U2 - https://doi.org/10.1038/s41431-022-01113-x
DO - https://doi.org/10.1038/s41431-022-01113-x
M3 - Article
C2 - 35577938
SN - 1018-4813
VL - 30
SP - 1017
EP - 1021
JO - European journal of human genetics
JF - European journal of human genetics
IS - 9
ER -