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A survey of copy-number variation detection tools based on high-throughput sequencing data

JamesLZ 添加于 2013-4-6 15:41 | 1224 次阅读 | 0 个评论

作者
Xi R, Lee S, Park PJ
摘要
Copy-number variation (CNV) is a major class of genomic variation with potentially important functional consequences in both normal and diseased populations. Remarkable advances in development of next-generation sequencing (NGS) platforms provide an unprecedented opportunity for accurate, high-resolution characterization of CNVs. In this unit, we give an overview of available computational tools for detection of CNVs and discuss comparative advantages and disadvantages of different approaches.
详细资料
- 关键词: Algorithms; Computational Biology/methods; *DNA Copy Number Variations; Genomics/*methods; *High-Throughput Nucleotide Sequencing; Internet
- 文献种类:期刊
- 期刊名称: Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [et al.]
- 期刊缩写: Curr Protoc Hum Genet
- 期卷页: 2012年第Chapter 7卷 Unit7.19页
- 地址: Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA
- ISBN: 1934-8258
相关链接 DOI URL