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Article: De novo assembly of a haplotype-resolved human genome

TitleDe novo assembly of a haplotype-resolved human genome
Authors
Issue Date2015
Citation
Nature Biotechnology, 2015, v. 33, n. 6, p. 617-622 How to Cite?
Abstract© 2015 Nature America, Inc. All rights reserved. The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.
Persistent Identifierhttp://hdl.handle.net/10722/251108
ISSN
2023 Impact Factor: 33.1
2023 SCImago Journal Rankings: 18.117
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorCao, Hongzhi-
dc.contributor.authorWu, Honglong-
dc.contributor.authorLuo, Ruibang-
dc.contributor.authorHuang, Shujia-
dc.contributor.authorSun, Yuhui-
dc.contributor.authorTong, Xin-
dc.contributor.authorXie, Yinlong-
dc.contributor.authorLiu, Binghang-
dc.contributor.authorYang, Hailong-
dc.contributor.authorZheng, Hancheng-
dc.contributor.authorLi, Jian-
dc.contributor.authorLi, Bo-
dc.contributor.authorWang, Yu-
dc.contributor.authorYang, Fang-
dc.contributor.authorSun, Peng-
dc.contributor.authorLiu, Siyang-
dc.contributor.authorGao, Peng-
dc.contributor.authorHuang, Haodong-
dc.contributor.authorSun, Jing-
dc.contributor.authorChen, Dan-
dc.contributor.authorHe, Guangzhu-
dc.contributor.authorHuang, Weihua-
dc.contributor.authorHuang, Zheng-
dc.contributor.authorLi, Yue-
dc.contributor.authorTellier, Laurent C.A.M.-
dc.contributor.authorLiu, Xiao-
dc.contributor.authorFeng, Qiang-
dc.contributor.authorXu, Xun-
dc.contributor.authorZhang, Xiuqing-
dc.contributor.authorBolund, Lars-
dc.contributor.authorKrogh, Anders-
dc.contributor.authorKristiansen, Karsten-
dc.contributor.authorDrmanac, Radoje-
dc.contributor.authorDrmanac, Snezana-
dc.contributor.authorNielsen, Rasmus-
dc.contributor.authorLi, Songgang-
dc.contributor.authorWang, Jian-
dc.contributor.authorYang, Huanming-
dc.contributor.authorLi, Yingrui-
dc.contributor.authorWong, Gane Ka Shu-
dc.contributor.authorWang, Jun-
dc.date.accessioned2018-02-01T01:54:36Z-
dc.date.available2018-02-01T01:54:36Z-
dc.date.issued2015-
dc.identifier.citationNature Biotechnology, 2015, v. 33, n. 6, p. 617-622-
dc.identifier.issn1087-0156-
dc.identifier.urihttp://hdl.handle.net/10722/251108-
dc.description.abstract© 2015 Nature America, Inc. All rights reserved. The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.-
dc.languageeng-
dc.relation.ispartofNature Biotechnology-
dc.titleDe novo assembly of a haplotype-resolved human genome-
dc.typeArticle-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1038/nbt.3200-
dc.identifier.pmid26006006-
dc.identifier.scopuseid_2-s2.0-84930946770-
dc.identifier.hkuros310901-
dc.identifier.volume33-
dc.identifier.issue6-
dc.identifier.spage617-
dc.identifier.epage622-
dc.identifier.eissn1546-1696-
dc.identifier.isiWOS:000356019700021-
dc.identifier.issnl1087-0156-

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