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Article: Building the sequence map of the human pan-genome

TitleBuilding the sequence map of the human pan-genome
Authors
Issue Date2010
Citation
Nature Biotechnology, 2010, v. 28, n. 1, p. 57-62 How to Cite?
AbstractHere we integrate the de novo assembly of an Asian and an African genome with the NCBI reference human genome, as a step toward constructing the human pan-genome. We identified ∼5 Mb of novel sequences not present in the reference genome in each of these assemblies. Most novel sequences are individual or population specific, as revealed by their comparison to all available human DNA sequence and by PCR validation using the human genome diversity cell line panel. We found novel sequences present in patterns consistent with known human migration paths. Cross-species conservation analysis of predicted genes indicated that the novel sequences contain potentially functional coding regions. We estimate that a complete human pan-genome would contain 19-40Mb of novel sequence not present in the extant reference genome. The extensive amount of novel sequence contributing to the genetic variation of the pan-genome indicates the importance of using complete genome sequencing and de novo assembly. © 2010 Nature America, Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/250934
ISSN
2023 Impact Factor: 33.1
2023 SCImago Journal Rankings: 18.117
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLi, Ruiqiang-
dc.contributor.authorLi, Yingrui-
dc.contributor.authorZheng, Hancheng-
dc.contributor.authorLuo, Ruibang-
dc.contributor.authorZhu, Hongmei-
dc.contributor.authorLi, Qibin-
dc.contributor.authorQian, Wubin-
dc.contributor.authorRen, Yuanyuan-
dc.contributor.authorTian, Geng-
dc.contributor.authorLi, Jinxiang-
dc.contributor.authorZhou, Guangyu-
dc.contributor.authorZhu, Xuan-
dc.contributor.authorWu, Honglong-
dc.contributor.authorQin, Junjie-
dc.contributor.authorJin, Xin-
dc.contributor.authorLi, Dongfang-
dc.contributor.authorCao, Hongzhi-
dc.contributor.authorHu, Xueda-
dc.contributor.authorBlanche, Hélène-
dc.contributor.authorCann, Howard-
dc.contributor.authorZhang, Xiuqing-
dc.contributor.authorLi, Songgang-
dc.contributor.authorBolund, Lars-
dc.contributor.authorKristiansen, Karsten-
dc.contributor.authorYang, Huanming-
dc.contributor.authorWang, Jun-
dc.contributor.authorWang, Jian-
dc.date.accessioned2018-02-01T01:54:07Z-
dc.date.available2018-02-01T01:54:07Z-
dc.date.issued2010-
dc.identifier.citationNature Biotechnology, 2010, v. 28, n. 1, p. 57-62-
dc.identifier.issn1087-0156-
dc.identifier.urihttp://hdl.handle.net/10722/250934-
dc.description.abstractHere we integrate the de novo assembly of an Asian and an African genome with the NCBI reference human genome, as a step toward constructing the human pan-genome. We identified ∼5 Mb of novel sequences not present in the reference genome in each of these assemblies. Most novel sequences are individual or population specific, as revealed by their comparison to all available human DNA sequence and by PCR validation using the human genome diversity cell line panel. We found novel sequences present in patterns consistent with known human migration paths. Cross-species conservation analysis of predicted genes indicated that the novel sequences contain potentially functional coding regions. We estimate that a complete human pan-genome would contain 19-40Mb of novel sequence not present in the extant reference genome. The extensive amount of novel sequence contributing to the genetic variation of the pan-genome indicates the importance of using complete genome sequencing and de novo assembly. © 2010 Nature America, Inc. All rights reserved.-
dc.languageeng-
dc.relation.ispartofNature Biotechnology-
dc.titleBuilding the sequence map of the human pan-genome-
dc.typeArticle-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/nbt.1596-
dc.identifier.pmid19997067-
dc.identifier.scopuseid_2-s2.0-74049090046-
dc.identifier.volume28-
dc.identifier.issue1-
dc.identifier.spage57-
dc.identifier.epage62-
dc.identifier.eissn1546-1696-
dc.identifier.isiWOS:000273430400021-
dc.identifier.issnl1087-0156-

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