Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

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作者： Charles A,Steward ^[1] ; Alasdair P J,Parker ^[2] ; Berge A,Minassian ^[3] ; Sanjay M,Sisodiya ^[4] ; Adam,Frankish ^[5] ; Jennifer,Harrow ^[6]

作者单位： Congenica Ltd, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1DR, UK. charles.steward@congenica.com. ^[1] The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. charles.steward@congenica.com. ^[2] Addenbrooke's Hospital and University of Cambridge, Cambridge, CB2 0QQ, UK. ^[3] Department of Pediatrics (Neurology), University of Texas Southwestern, Dallas, TX, USA. ^[4] Program in Genetics and Genome Biology and Department of Paediatrics (Neurology), The Hospital for Sick Children and University of Toronto, Toronto, Canada. ^[5] Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, WC1N 3BG, UK. ^[6] Chalfont Centre for Epilepsy, Chesham Lane, Chalfont St Peter, Buckinghamshire, SL9 0RJ, UK. ^[7] The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK. ^[8] European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK. ^[9] Illumina Inc, Great Chesterford, Essex, CB10 1XL, UK. ^[10]

主题词诊断技术和方法(Diagnostic Techniques and Procedures);遗传变异(Genetic Variation);人类(Humans);分子序列注释(Molecular Sequence Annotation);拟基因(Pseudogenes);序列分析, DNA(Sequence Analysis, DNA)

DOI 10.1186/s13073-017-0441-1

PMID 28558813

发布时间 2023-08-04

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