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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03227naa a2200613 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:149554168 | |
| 003 | SwePub | |
| 008 | 240829s2022 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1495541682 URI |
| 024 | 7 | a https://doi.org/10.1038/s41431-022-01113-x2 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Souche, E4 aut |
| 245 | 1 0 | a Recommendations for whole genome sequencing in diagnostics for rare diseases |
| 264 | c 2022-05-16 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2022 |
| 520 | a 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. | |
| 700 | 1 | a Beltran, S4 aut |
| 700 | 1 | a Brosens, E4 aut |
| 700 | 1 | a Belmont, JW4 aut |
| 700 | 1 | a Fossum, Mu Karolinska Institutet4 aut |
| 700 | 1 | a Riess, O4 aut |
| 700 | 1 | a Gilissen, C4 aut |
| 700 | 1 | a Ardeshirdavani, A4 aut |
| 700 | 1 | a Houge, G4 aut |
| 700 | 1 | a van Gijn, M4 aut |
| 700 | 1 | a Clayton-Smith, J4 aut |
| 700 | 1 | a Synofzik, M4 aut |
| 700 | 1 | a de Leeuw, N4 aut |
| 700 | 1 | a Deans, ZC4 aut |
| 700 | 1 | a Dincer, Y4 aut |
| 700 | 1 | a Eck, SH4 aut |
| 700 | 1 | a Crabben, SV4 aut |
| 700 | 1 | a Balasubramanian, M4 aut |
| 700 | 1 | a Graessner, H4 aut |
| 700 | 1 | a Sturm, M4 aut |
| 700 | 1 | a Firth, H4 aut |
| 700 | 1 | a Ferlini, A4 aut |
| 700 | 1 | a Nabbout, R4 aut |
| 700 | 1 | a De Baere, E4 aut |
| 700 | 1 | a Liehr, T4 aut |
| 700 | 1 | a Macek, M4 aut |
| 700 | 1 | a Matthijs, G4 aut |
| 700 | 1 | a Scheffer, H4 aut |
| 700 | 1 | a Bauer, P4 aut |
| 700 | 1 | a Yntema, HG4 aut |
| 700 | 1 | a Weiss, MM4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t European journal of human genetics : EJHGd : Springer Science and Business Media LLCg 30:109, s. 1017-1021q 30:109<1017-1021x 1476-5438x 1018-4813 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:149554168 |
| 856 | 4 8 | u https://doi.org/10.1038/s41431-022-01113-x |
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