作者
Gareth Highnam, Christopher Franck, Andy Martin, Calvin Stephens, Ashwin Puthige, David Mittelman
发表日期
2013/1/1
期刊
Nucleic acids research
卷号
41
期号
1
页码范围
e32-e32
出版商
Oxford University Press
简介
Repetitive sequences are biologically and clinically important because they can influence traits and disease, but repeats are challenging to analyse using short-read sequencing technology. We present a tool for genotyping microsatellite repeats called RepeatSeq, which uses Bayesian model selection guided by an empirically derived error model that incorporates sequence and read properties. Next, we apply RepeatSeq to high-coverage genomes from the 1000 Genomes Project to evaluate performance and accuracy. The software uses common formats, such as VCF, for compatibility with existing genome analysis pipelines. Source code and binaries are available at http://github.com/adaptivegenome/repeatseq.
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