De novo assembly of human genomes with massively parallel short read sequencing

Ruiqiang Li;Hongmei Zhu;Jue Ruan;Wubin Qian;Xiaodong Fang;Zhongbin Shi;Yingrui Li;Shengting Li;Gao Shan;Karsten Kristiansen;Songgang Li;焕明 杨;Jian Wang;军 王

CAS - Beijing Institute of Genomics;University of Copenhagen

发表时间:2010-2

期 刊:Genome Research

语 言:English

U R L: http://www.scopus.com/inward/record.url?scp=75649124547&partnerID=8YFLogxK

摘要

Next-generation massively parallel DNA sequencing technologies provide ultrahigh throughput at a substantially lower unit data cost; however, the data are very short read length sequences, making de novo assembly extremely challenging. Here, we describe a novel method for de novo assembly of large genomes from short read sequences. We successfully assembled both the Asian and African human genome sequences, achieving an N50 contig size of 7.4 and 5.9 kilobases (kb) and scaffold of 446.3 and 61.9 kb, respectively. The development of this de novo short read assembly method creates new opportunities for building reference sequences and carrying out accurate analyses of unexplored genomes in a cost-effective way.

相关科学

生物化学、遗传学和分子生物学
遗传学
医学
遗传学(临床)

文献指纹

医学与生命科学

Human Genome

Genome

Costs and Cost Analysis

High-Throughput Nucleotide Sequencing

DNA Sequence Analysis

Technology

被引量

期刊度量

Scopus度量

年份 CiteScore SJR SNIP
1996
1997
1998
1999 5.892 2.261
2000 5.531 2.121
2001 6.272 2.112
2002 6.339 2.041
2003 6.795 2.277
2004 7.78 2.29
2005 7.935 2.377
2006 6.922 2.229
2007 9.062 2.443
2008 8.588 2.075
2009 10.404 2.56
2010 12.476 2.551
2011 24.6 14.017 2.966
2012 25.4 14.306 3.06
2013 25.8 15.228 2.865
2014 26.3 14.817 2.917
2015 28.2 14.278 2.914
2016 22.6 12.594 2.395
2017 22 12.367 2.408
2018 18 10.205 2.499
2019 16.8 9.245 2.534
2020 19.3
2021

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