Towards a comprehensive structural variation map of an individual human genome 英文参考文献.docVIP

下载本文档

4
0
约6.96万字
约 14页
2017-05-16 发布于上海
举报
版权申诉

Towards a comprehensive structural variation map of an individual human genome 英文参考文献.doc

1、本文档共14页，可阅读全部内容。
2、原创力文档（book118）网站文档一经付费（服务费），不意味着购买了该文档的版权，仅供个人/单位学习、研究之用，不得用于商业用途，未经授权，严禁复制、发行、汇编、翻译或者网络传播等，侵权必究。
3、本站所有内容均由合作方或网友上传，本站不对文档的完整性、权威性及其观点立场正确性做任何保证或承诺！文档内容仅供研究参考，付费前请自行鉴别。如您付费，意味着您自己接受本站规则且自行承担风险，本站不退款、不进行额外附加服务；查看《如何避免下载的几个坑》。如果您已付费下载过本站文档，您可以点击这里二次下载。
4、如文档侵犯商业秘密、侵犯著作权、侵犯人身权等，请点击“版权申诉”（推荐），也可以打举报电话：400-050-0827(电话支持时间：9:00-18:30)。
5、该文档为VIP文档，如果想要下载，成为VIP会员后，下载免费。
6、成为VIP后，下载本文档将扣除1次下载权益。下载后，不支持退款、换文档。如有疑问请联系我们。
7、成为VIP后，您将拥有八大权益，权益包括：VIP文档下载权益、阅读免打扰、文档格式转换、高级专利检索、专属身份标志、高级客服、多端互通、版权登记。
8、VIP文档为合作方或网友上传，每下载1次，网站将根据用户上传文档的质量评分、类型等，对文档贡献者给予高额补贴、流量扶持。如果你也想贡献VIP文档。上传文档

Towards a comprehensive structural variation map of an individual human genome 英文参考文献

Pang et al. Genome Biology 2010, 11:R52 /2010/11/5/R52 RESEARCH Open Access Towards a comprehensive structural variation map Research of an individual human genome Andy W Pang1,2, Jeffrey R MacDonald2, Dalila Pinto2, John Wei2, Muhammad A Rafiq2, Donald F Conrad3, Hansoo Park4, Matthew E Hurles3, Charles Lee4, J Craig Venter5, Ewen F Kirkness5, Samuel Levy5, Lars Feuk*?2,6 and Stephen W Scherer*?1,2 HumanAtshecetofhomurpmarstructuralneaahnlyegsneesnsivooemfmvariationfeuaptpurroofevpistructuraldeersoanraelfegrvariationeennocme desa.tain- Abstract Background: Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (10 bp) insertion/ deletions (indels), the annotation of larger structural variants has been less comprehensive. It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions. Results: We have combined computational re-analysis of existing whole genome sequence data with novel microarray-based analysis, and detect 12,178 structural variants covering 40.6 Mb that were not reported in the initial sequencing of the first published personal genome. We estimate a total non-SNP variation content of 48.8 Mb in a single genome. Our results indicate that this genome differs from the consensus reference sequence by approximately 1.2% when considering indels/CNVs, 0.1% by SNPs and approximately 0.3% by inversions. The structural variants impact 4,867 genes, and 24% of structural variants would not be imputed by SNP-association. Conclusions: Our results indicate that a large number of structural variants have been unreported in the individual genomes published to date. This significant extent and complexity of structural variants, as well as the growing recognition of their medic