SNP-sites: rapid efficient extraction of SNPs from multi-FASTA alignments

被引:833
作者
Page, Andrew J. [1 ]
Taylor, Ben [1 ]
Delaney, Aidan J. [2 ]
Soares, Jorge [1 ]
Seemann, Torsten [3 ]
Keane, Jacqueline A. [1 ]
Harris, Simon R. [1 ]
机构
[1] Wellcome Trust Sanger Inst, Pathogen Genom, Wellcome Genome Campus, Cambridge CB10 1SA, England
[2] Univ Brighton, Comp Engn & Math, Brighton BN2 4GJ, E Sussex, England
[3] Univ Melbourne, Victorian Life Sci Computat Initiat, Parkville, Vic, Australia
来源
MICROBIAL GENOMICS | 2016年 / 2卷 / 04期
基金
英国惠康基金;
关键词
software; SNP calling; high throughput;
D O I
10.1099/mgen.0.000056
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Rapidly decreasing genome sequencing costs have led to a proportionate increase in the number of samples used in prokaryotic population studies. Extracting single nucleotide polymorphisms (SNPs) from a large whole genome alignment is now a routine task, but existing tools have failed to scale efficiently with the increased size of studies. These tools are slow, memory inefficient and are installed through non-standard procedures. We present SNP-sites which can rapidly extract SNPs from a multi-FASTA alignment using modest resources and can output results in multiple formats for downstream analysis. SNPs can be extracted from a 8.3 GB alignment file (1842 taxa, 22 618 sites) in 267 seconds using 59 MB of RAM and 1 CPU core, making it feasible to run on modest computers. It is easy to install through the Debian and Homebrew package managers, and has been successfully tested on more than 20 operating systems. SNP-sites is implemented in C and is available under the open source license GNU GPL version 3.
引用
收藏
页数:5
相关论文
共 16 条
  • [1] [Anonymous], 2002, PAUP*. Phylogenetic Analysis Using Parsimony (*and other methods). Version 4
  • [2] trimAl: a tool for automated alignment trimming in large-scale phylogenetic analyses
    Capella-Gutierrez, Salvador
    Silla-Martinez, Jose M.
    Gabaldon, Toni
    [J]. BIOINFORMATICS, 2009, 25 (15) : 1972 - 1973
  • [3] Second-generation PLINK: rising to the challenge of larger and richer datasets
    Chang, Christopher C.
    Chow, Carson C.
    Tellier, Laurent C. A. M.
    Vattikuti, Shashaank
    Purcell, Shaun M.
    Lee, James J.
    [J]. GIGASCIENCE, 2015, 4
  • [4] Dense genomic sampling identifies highways of pneumococcal recombination
    Chewapreecha, Claire
    Harris, Simon R.
    Croucher, Nicholas J.
    Turner, Claudia
    Marttinen, Pekka
    Cheng, Lu
    Pessia, Alberto
    Aanensen, David M.
    Mather, Alison E.
    Page, Andrew J.
    Salter, Susannah J.
    Harris, David
    Nosten, Francois
    Goldblatt, David
    Corander, Jukka
    Parkhill, Julian
    Turner, Paul
    Bentley, Stephen D.
    [J]. NATURE GENETICS, 2014, 46 (03) : 305 - +
  • [5] The variant call format and VCFtools
    Danecek, Petr
    Auton, Adam
    Abecasis, Goncalo
    Albers, Cornelis A.
    Banks, Eric
    DePristo, Mark A.
    Handsaker, Robert E.
    Lunter, Gerton
    Marth, Gabor T.
    Sherry, Stephen T.
    McVean, Gilean
    Durbin, Richard
    [J]. BIOINFORMATICS, 2011, 27 (15) : 2156 - 2158
  • [6] MUSCLE: multiple sequence alignment with high accuracy and high throughput
    Edgar, RC
    [J]. NUCLEIC ACIDS RESEARCH, 2004, 32 (05) : 1792 - 1797
  • [7] MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability
    Katoh, Kazutaka
    Standley, Daron M.
    [J]. MOLECULAR BIOLOGY AND EVOLUTION, 2013, 30 (04) : 772 - 780
  • [8] Lindenbaum P., 2015, JVarkit: java-based utilities for Bioinformatics, DOI [DOI 10.6084/M9.FIGSHARE.1425030, 10.6084/M9.FIGSHARE.1425030.V1, DOI 10.6084/M9.FIGSHARE.1425030.V1]
  • [9] PGDSpider: an automated data conversion tool for connecting population genetics and genomics programs
    Lischer, H. E. L.
    Excoffier, L.
    [J]. BIOINFORMATICS, 2012, 28 (02) : 298 - 299
  • [10] Löytynoja A, 2014, METHODS MOL BIOL, V1079, P155, DOI 10.1007/978-1-62703-646-7_10