BS-SNPer: SNP calling in bisulfite-seq data
Author(s) -
Shengjie Gao,
Dan Zou,
Likai Mao,
Huayu Liu,
Pengfei Song,
Youguo Chen,
Shancen Zhao,
Changduo Gao,
Xiangchun Li,
Zhibo Gao,
Xiaodong Fang,
Huanming Yang,
Torben F. Ørntoft,
Karina D. Sørensen,
Lars Bolund
Publication year - 2015
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv507
Subject(s) - bisulfite , snp , sodium bisulfite , computational biology , bisulfite sequencing , single nucleotide polymorphism , genetics , epigenetics , perl , biology , computer science , dna methylation , gene , genotype , chemistry , operating system , gene expression , organic chemistry
Sodium bisulfite conversion followed by sequencing (BS-Seq, such as whole genome bisulfite sequencing or reduced representation bisulfite sequencing) has become popular for studying human epigenetic profiles. Identifying single nucleotide polymorphisms (SNPs) is important for quantification of methylation levels and for study of allele-specific epigenetic events such as imprinting. However, SNP calling in such data is complex and time consuming. Here, we present an ultrafast and memory-efficient package named BS-SNPer for the exploration of SNP sites from BS-Seq data. Compared with Bis-SNP, a popular BS-Seq specific SNP caller, BS-SNPer is over 100 times faster and uses less memory. BS-SNPer also offers higher sensitivity and specificity compared with existing methods.
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