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Recommendations for whole genome sequencing in diagnostics for rare diseases
E. Souche, S. Beltran, E. Brosens, JW. Belmont, M. Fossum, O. Riess, C. Gilissen, A. Ardeshirdavani, G. Houge, M. van Gijn, J. Clayton-Smith, M. Synofzik, N. de Leeuw, ZC. Deans, Y. Dincer, SH. Eck, S. van der Crabben, M. Balasubramanian, H....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed Central od 2009 do Před 1 rokem
Europe PubMed Central od 2009 do Před 1 rokem
ProQuest Central od 2000-01-01 do Před 1 rokem
Open Access Digital Library od 1998-01-01
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Odkazy
PubMed
35577938
DOI
10.1038/s41431-022-01113-x
Knihovny.cz E-zdroje
- MeSH
- exom * MeSH
- genom lidský * MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- sekvenování celého genomu MeSH
- vysoce účinné nukleotidové sekvenování metody MeSH
- vzácné nemoci diagnóza genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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.
Agilent Technologies Diagnostics and Genomics Group Leuven Belgium
Center for Human Genetics KU Leuven Gasthuisberg Laboratory for Molecular Diagnosis Leuven Belgium
Center for Medical Genetics Ghent University Hospital Ghent Belgium
CENTOGENE GmbH Am Strande 7 18055 Rostock Germany
Department of Biomolecular Medicine Ghent University Ghent Belgium
Department of Medical Genetics Haukeland University Hospital 5021 Bergen Norway
Department of Oncology and Metabolism University of Sheffield Sheffield UK
Dept of Clinical Genetics Box 134 Cambridge University Hospitals Cambridge UK
Genomics Quality Assessment NHS Lothian Edinburgh Scotland
German Center for Neurodegenerative Diseases Tübingen Germany
Hertie Institute for Clinical Brain Research University of Tübingen Tübingen Germany
Illumina Inc Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA
Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany
Jena University Hospital Friedrich Schiller University Institute of Human Genetics Jena Germany
Lehrstuhl für Sozialpädiatrie Technische Universität München Munich Germany
MVZ Martinsried GmbH Martinsried Germany
Universitat Pompeu Fabra Barcelona Spain
Zentrum für Humangenetik und Laboratoriumsdiagnostik Martinsried Germany
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