Improved variant discovery through local re-alignment of short-read next-generation sequencing data using SRMA

被引:52
作者
Homer, Nils [1 ,2 ]
Nelson, Stanley F. [2 ]
机构
[1] Univ Calif Los Angeles, Dept Comp Sci, Los Angeles, CA 90095 USA
[2] Univ Calif Los Angeles, Dept Human Genet, David Geffen Sch Med, Los Angeles, CA 90025 USA
来源
GENOME BIOLOGY | 2010年 / 11卷 / 10期
关键词
ASSEMBLY STRING GRAPH; PROGRAM;
D O I
10.1186/gb-2010-11-10-r99
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
A primary component of next-generation sequencing analysis is to align short reads to a reference genome, with each read aligned independently. However, reads that observe the same non-reference DNA sequence are highly correlated and can be used to better model the true variation in the target genome. A novel short-read micro re-aligner, SRMA, that leverages this correlation to better resolve a consensus of the underlying DNA sequence of the targeted genome is described here.
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页数:12
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