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Autor
Ardeshirdavani, Amin 1 Balasubramanian, Meena 1 Bauer, Peter 1 Belmont, John W 1 Beltran, Sergi 1 Brosens, Erwin 1 Clayton-Smith, Jill 1 De Baere, Elfride 1 Deans, Zandra C 1 Dincer, Yasemin 1 Eck, Sebastian H 1 Ferlini, Alessandra 1 Firth, Helen 1 Fossum, Magdalena 1 Gilissen, Christian 1 Graessner, Holm 1 Houge, Gunnar 1 Liehr, Thomas 1 Macek, Milan 1 Matthijs, Gert 1
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Pracoviště
Agilent Technologies Diagnostics and ... 1 Amsterdam University Medical Centers ... 1 CENTOGENE GmbH Am Strande 7 18055 Ros... 1 CNAG CRG Centre for Genomic Regulatio... 1 Center for Human Genetics KU Leuven G... 1 Center for Medical Genetics Ghent Uni... 1 Departament de Genètica Microbiologia... 1 Department of Biomolecular Medicine G... 1 Department of Genetics University Med... 1 Department of Human Genetics and Dond... 1 Department of Human Genetics and Radb... 1 Department of Medical Genetics Haukel... 1 Department of Oncology and Metabolism... 1 Department of biology and medical gen... 1 Dept of Clinical Genetics Box 134 Cam... 1 Dept of Pediatric Surgery Rigshospita... 1 Division of Evolution and Genomic Sci... 1 Erasmus MC University Medical Center ... 1 Genomics Quality Assessment NHS Lothi... 1 German Center for Neurodegenerative D... 1
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Autor
Ardeshirdavani, Amin 1 Balasubramanian, Meena 1 Bauer, Peter 1 Belmont, John W 1 Beltran, Sergi 1 Brosens, Erwin 1 Clayton-Smith, Jill 1 De Baere, Elfride 1 Deans, Zandra C 1 Dincer, Yasemin 1 Eck, Sebastian H 1 Ferlini, Alessandra 1 Firth, Helen 1 Fossum, Magdalena 1 Gilissen, Christian 1 Graessner, Holm 1 Houge, Gunnar 1 Liehr, Thomas 1 Macek, Milan 1 Matthijs, Gert 1
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Pracoviště
Agilent Technologies Diagnostics and ... 1 Amsterdam University Medical Centers ... 1 CENTOGENE GmbH Am Strande 7 18055 Ros... 1 CNAG CRG Centre for Genomic Regulatio... 1 Center for Human Genetics KU Leuven G... 1 Center for Medical Genetics Ghent Uni... 1 Departament de Genètica Microbiologia... 1 Department of Biomolecular Medicine G... 1 Department of Genetics University Med... 1 Department of Human Genetics and Dond... 1 Department of Human Genetics and Radb... 1 Department of Medical Genetics Haukel... 1 Department of Oncology and Metabolism... 1 Department of biology and medical gen... 1 Dept of Clinical Genetics Box 134 Cam... 1 Dept of Pediatric Surgery Rigshospita... 1 Division of Evolution and Genomic Sci... 1 Erasmus MC University Medical Center ... 1 Genomics Quality Assessment NHS Lothi... 1 German Center for Neurodegenerative D... 1
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- Souche, Erika
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Beltran, Sergi
Autor Beltran, Sergi ORCID CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain Universitat Pompeu Fabra (UPF), Barcelona, Spain Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain
- Brosens, Erwin
- Belmont, John W
- Fossum, Magdalena
- Riess, Olaf
- Gilissen, Christian
- Ardeshirdavani, Amin
- Houge, Gunnar
- van Gijn, Marielle
NLK
Free Medical Journals
od 2009
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
PubMed
35577938
DOI
10.1038/s41431-022-01113-x
Knihovny.cz E-zdroje
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.
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