Wessim: a whole-exome sequencing simulator based on in silico exome capture

被引:27
|
作者
Kim, Sangwoo [1 ]
Jeong, Kyowon [2 ]
Bafna, Vineet [1 ]
机构
[1] Univ Calif San Diego, Dept Comp Sci & Engn, La Jolla, CA 92093 USA
[2] Univ Calif San Diego, Dept Elect & Comp Engn, La Jolla, CA 92093 USA
基金
美国国家科学基金会;
关键词
COPY-NUMBER VARIATION;
D O I
10.1093/bioinformatics/btt074
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent's SureSelect and NimbleGen's SeqCap, to generate DNA fragments from genomic target regions. The target regions can be either specified by genomic coordinates or inferred from in silico probe hybridization. Coupled with existing next-generation sequencing simulators, Wessim generates a realistic artificial exome sequencing data, which is essential for developing and evaluating exome-targeted variant callers.
引用
收藏
页码:1076 / 1077
页数:2
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