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BS-SNPer: SNP calling in bisulfite-seq data

  • 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
  • Aarhus University
  • BGI Co. Ltd.
  • National University of Defense Technology
  • Queensland Institute of Medical Research
  • University of Colorado Denver
  • Futian hospital
  • The First Affiliated Hospital of Soochow University
  • Qingdao University

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)4006-4008
Number of pages3
JournalBioinformatics
Volume31
Issue number24
DOIs
StatePublished - 3 Jul 2015
Externally publishedYes

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