నైరూప్య

A light weight SNP detection algorithm for the breast cancer targeted sequencing data

Guobin Chen, Xianzhong Xie

Many methods have been developed for Single Nucleotide Polymorphism (SNP) detection, but these methods are based on BWA or Bowtie matching software, because of the existence of this high false positive software, resulting in the test results Incorrect. The sequencing target region covered the entire coding region, exon-intron junction region (20-50 bp) and partial intron region of BRCA1/2 genes, 328 exon, 101.3k regions (http://pan.baidu.com/s/1kVNlWQb). A SNP detection algorithm based on breast cancer target DNA sequencing data is proposed, which has more advantages than Bcftools and IGV, which are the most commonly tools.