Art

J-GLOBAL ID：201902222334666917   Reference number：19A0719206

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

生物情報学的パイプラインの再解析と最適化は突然変異検出に重要である【JST・京大機械翻訳】

Author (25)： Cowley Mark J (Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia) ,  Cowley Mark J (St Vincent’s Clinical School, University of New South Wales, Darlinghurst, Australia) ,  Liu Yu-Chi (Population Health and Immunity Division, Walter and Eliza Hall Institute, Melbourne, Australia) ,  Liu Yu-Chi (Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia) ,  Liu Yu-Chi (Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia) ,  Oliver Karen L. (Population Health and Immunity Division, Walter and Eliza Hall Institute, Melbourne, Australia) ,  Oliver Karen L. (Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia) ,  Carvill Gemma (Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL) ,  Myers Candace T. (Department of Pediatrics, University of Washington, Seattle, WA) ,  Gayevskiy Velimir (Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia) ,  Delatycki Martin (Austin Health, Melbourne, Australia) ,  Vlaskamp Danique R.M. (Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia) ,  Zhu Ying (Department of Medical Genetics, Royal North Shore Hospital, St Leonards, Australia) ,  Mefford Heather (Department of Pediatrics, University of Washington, Seattle, WA) ,  Buckley Michael F. (NSW Health Pathology Randwick, Sydney, Australia) ,  Bahlo Melanie (Population Health and Immunity Division, Walter and Eliza Hall Institute, Melbourne, Australia) ,  Bahlo Melanie (Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia) ,  Scheffer Ingrid E. (Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia) ,  Scheffer Ingrid E. (Florey Institute, Melbourne, Australia) ,  Scheffer Ingrid E. (Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, Australia) ,  Dinger Marcel E. (Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia) ,  Dinger Marcel E. (St Vincent’s Clinical School, University of New South Wales, Darlinghurst, Australia) ,  Roscioli Tony (Centre for Clinical Genetics, Sydney Children’s Hospital, Randwick, Australia) ,  Roscioli Tony (Prince of Wales Clinical School, University of New South Wales, Sydney, Australia) ,  Roscioli Tony (Neuroscience Research Australia, University of New South Wales, Randwick, Sydney, Australia)
Material： Human Mutation
Volume： 40  Issue： 4  Page： 374-379  Publication year： 2019 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Rapid advances in genomic tech...

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Thesaurus term： genome ,  high speed ,  orthogonality ,  pathogenicity ,  *optimization ,  alignment ,  Heredity ,  human ,  contig ,  MHC (gene) ,  Exosomes ,  heterozygosity ,  genome alignment ,  *bioinformatics ,  *modification
Semi thesaurus term： 同胞 ,  *再解析 , 【Automatic Indexing@JST】

Author keywords (2)： clinical bioinformatics de novo ,  developmental and epileptic encephalopathy whole genome sequencing

JST classification (2)： Genetic variation  (EC01030Y) ,  Molecular genetics in general  (EC02010J)

Terms in the title (5)： 生物情報学 ,  パイプライン ,  再解析 ,  最適化 ,  突然変異検出

license：
© 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc.