Polymorphic edge detection (PED): two efficient methods of polymorphism detection from next-generation sequencing data

多态性边缘检测(PED):从下一代测序数据中检测多态性的两种有效方法

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作者:Akio Miyao, Jianyu Song Kiyomiya, Keiko Iida, Koji Doi, Hiroshi Yasue

Background

Accurate detection of polymorphisms with a next generation sequencer data is an important element of current genetic analysis. However, there is still no detection pipeline that is completely reliable. Result: We demonstrate two new detection

Conclusions

Using Polymorphic Edge Detection (PED), the k-mer method is able to detect SNPs by direct comparison of short-reads in two datasets without genomic alignment step, and the bidirectional alignment method is able to detect SNPs and structural variations from even single-end short-reads. The PED is an efficient tool to obtain accurate data for both SNPs and structural variations. Availability: The PED software is available at: https://github.com/akiomiyao/ped .

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