Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.
作者信息
Punetha Jaya, Hoffman Eric P
机构信息
Department of Integrative Systems Biology, The George Washington University School of Medicine, Washington, DC, USA.
出版信息
Circ Cardiovasc Genet. 2013 Aug;6(4):427-34. doi: 10.1161/CIRCGENETICS.113.000085. Epub 2013 Jul 14.
Abstract
摘要
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Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.短读长（新一代）测序：以心肌病诊断为例的教程。
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Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.
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Practices and policies of clinical exome sequencing providers: analysis and implications.临床外显子组测序服务提供商的实践和政策：分析与启示。
Am J Med Genet A. 2013 May;161A(5):935-50. doi: 10.1002/ajmg.a.35942.
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Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.靶向下一代测序可以替代桑格测序在临床诊断中的应用。
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