Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
作者： Bert Van der Zwaag , Jan D. H. Jongbloed , Maartje J. Vogel , Hennie T. Brüggenwirth , Ronald H. Lekanne Deprez
DOI: 10.1002/HUMU.22368
关键词:
摘要: Next-generation sequencing (NGS) methods are being adopted by genome diagnostics laboratories worldwide. However, implementing NGS-based tests according to diagnostic standards is a challenge for individual laboratories. To facilitate the implementation of NGS in Dutch laboratories, Society Clinical Genetic Laboratory Diagnostics (VKGL) set up working group 2012. The results their discussions presented here. We provide best practice guidelines and criteria validating applications clinical setting. introduce concept "diagnostic yield" as main performance characteristic evaluating tests. recommend that laboratory procedures, including tested genes, should be recorded publicly available document describing complete routing." also propose use list "core disease genes" specific genetic diseases. This core contains essential genes each disease, they all included test establish reliable accurate molecular diagnosis. will ensure clear standardized quality care provided here were VKGL January 2013.
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Niranjan Nagarajan, Mihai Pop, Sequencing and Genome Assembly Using Next-Generation Technologies Methods in Molecular Biology. ,vol. 673, pp. 1- 17 ,(2010) , 10.1007/978-1-60761-842-3_1
Ben Langmead, Aligning Short Sequencing Reads with Bowtie Current protocols in human genetics. ,vol. 32, ,(2010) , 10.1002/0471250953.BI1107S32
Carla Marini, Ingrid E. Scheffer, Rima Nabbout, Arvid Suls, Peter De Jonghe, Federico Zara, Renzo Guerrini, The genetics of Dravet syndrome Epilepsia. ,vol. 52, pp. 24- 29 ,(2011) , 10.1111/J.1528-1167.2011.02997.X
B. L. Loeys, H. C. Dietz, A. C. Braverman, B. L. Callewaert, J. De Backer, R. B. Devereux, Y. Hilhorst-Hofstee, G. Jondeau, L. Faivre, D. M. Milewicz, R. E. Pyeritz, P. D. Sponseller, P. Wordsworth, A. M. De Paepe, The revised Ghent nosology for the Marfan syndrome Journal of Medical Genetics. ,vol. 47, pp. 476- 485 ,(2010) , 10.1136/JMG.2009.072785
Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka, Kazuyoshi Watanabe, Tasuku Miyajima, Sawa Yasumoto, Masaharu Ohfu, Takahito Inoue, Aruchalean Watanachai, Ryutaro Kira, Muneaki Matsuo, Hideki Muranaka, Fumiko Sofue, Bo Zhang, Sunao Kaneko, Akihisa Mitsudome, Shinichi Hirose, Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB) Epilepsia. ,vol. 45, pp. 140- 148 ,(2004) , 10.1111/J.0013-9580.2004.15103.X
Morag E Shanks, Susan M Downes, Richard R Copley, Stefano Lise, John Broxholme, Karl AZ Hudspith, Alexandra Kwasniewska, Wayne IL Davies, Mark W Hankins, Emily R Packham, Penny Clouston, Anneke Seller, Andrew OM Wilkie, Jenny C Taylor, Jiannis Ragoussis, Andrea H Németh, Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease European Journal of Human Genetics. ,vol. 21, pp. 274- 280 ,(2013) , 10.1038/EJHG.2012.172
Lídia Feliubadaló, Adriana Lopez-Doriga, Ester Castellsagué, Jesús Del Valle, Mireia Menéndez, Eva Tornero, Eva Montes, Raquel Cuesta, Carolina Gómez, Olga Campos, Marta Pineda, Sara González, Victor Moreno, Joan Brunet, Ignacio Blanco, Eduard Serra, Gabriel Capellá, Conxi Lázaro, None, Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes European Journal of Human Genetics. ,vol. 21, pp. 864- 870 ,(2013) , 10.1038/EJHG.2012.270
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario, Bregje W M van Bon, Alexander Hoischen, Bert B A de Vries, Han G Brunner, Joris A Veltman, A de novo paradigm for mental retardation. Nature Genetics. ,vol. 42, pp. 1109- 1112 ,(2010) , 10.1038/NG.712
Paul Flicek, Ewan Birney, Sense from sequence reads: methods for alignment and assembly Nature Methods. ,vol. 6, pp. 479- ,(2009) , 10.1038/NMETH.1376
Amy L. McGuire, Laurence B. McCullough, James P. Evans, The Indispensable Role of Professional Judgment in Genomic Medicine JAMA. ,vol. 309, pp. 1465- 1466 ,(2013) , 10.1001/JAMA.2013.1438