Ruiqiang Li;Yingrui Li;Hancheng Zheng;Ruibang Luo;Hongmei Zhu;Qibin Li;Wubin Qian;Yuanyuan Ren;Geng Tian;Jinxiang Li;Guangyu Zhou;Xuan Zhu;Honglong Wu;Junjie Qin;Xin Jin;Dongfang Li;Hongzhi Cao;Xueda Hu;Hélène Blanche;Howard Cann;Xiuqing Zhang;Songgang Li;Lars Bolund;Karsten Kristiansen;焕明 杨;军 王;Jian Wang
BGI-Shenzhen;University of Copenhagen;South China University of Technology;Shenzhen University;Fondation Jean Dausset - CEPH;Aarhus University;China Association for Science and Technology
发表时间:2010-1
期 刊:Nature Biotechnology
语 言:English
U R L: http://www.scopus.com/inward/record.url?scp=74049090046&partnerID=8YFLogxK
Here 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.
医学与生命科学
化合物
工程与材料科学
Scopus度量
年份 | CiteScore | SJR | SNIP |
---|---|---|---|
1996 | |||
1997 | |||
1998 | |||
1999 | 2.963 | 2.113 | |
2000 | 2.732 | 2.307 | |
2001 | 2.813 | 2.731 | |
2002 | 3.212 | 3.012 | |
2003 | 4.031 | 2.989 | |
2004 | 4.871 | 3.6 | |
2005 | 5.333 | 3.799 | |
2006 | 5.875 | 4.63 | |
2007 | 5.146 | 4.581 | |
2008 | 6.205 | 4.98 | |
2009 | 7.942 | 5.575 | |
2010 | 9.62 | 6.219 | |
2011 | 38.7 | 11.749 | 6.125 |
2012 | 31.3 | 10.87 | 4.853 |
2013 | 35.3 | 13.974 | 5.306 |
2014 | 33.9 | 16.609 | 5.263 |
2015 | 39.6 | 18.263 | 5.454 |
2016 | 46.3 | 20.666 | 6.469 |
2017 | 44.8 | 18.252 | 6.257 |
2018 | 34.4 | 14.568 | 5.901 |
2019 | 31.5 | 12.565 | 5.715 |
2020 | 31.8 |
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