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. Author manuscript; available in PMC: 2018 Mar 5.
Published in final edited form as: Annu Rev Anim Biosci. 2015;3:57–111. doi: 10.1146/annurev-animal-090414-014900

Table 5.

Example tools used for genome assembly, annotation of genome features, and mapping

Feature Example software URL Reference
1. Genome assembly (de novo) ALLPATHS_LG http://www.broadinstitute.org/software/allpaths-lg/blog/ 211
SOAPdenovo2 http://soap.genomics.org.cn/soapdenovo.html 212
2. Assembly statistics FASTQC www.bioinformatics.babraham.ac.uk/projects/fastqc/
3. Gene annotationa GENSCAN http://genes.mit.edu/GENSCAN.html 213
AUGUSTUS http://bioinf.uni-greifswald.de/augustus/ 214
Gnomon http://www.ncbi.nlm.nih.gov/genome/guide/gnomon.shtml
Genewise http://www.ebi.ac.uk/~birney/wise2/ 216
Exonerate http://www.ebi.ac.uk/~guy/exonerate/ 217
Splign http://www.ncbi.nlm.nih.gov/sutils/splign/splign.cgi 218
4. DNA variants
 a. SNPs SAMtools http://samtools.github.io/ 219
VCFtools http://vcftools.sourceforge.net/ 220
GATK https://www.broadinstitute.org/gatk/ 221
 b. Indels BreakDancer http://breakdancer.sourceforge.net/ 222
VariationHunter http://compbio.cs.sfu.ca/software-variation-hunter 223
Picard http://sourceforge.net/projects/picard/
 c. Copy number variationb Cortex assembler http://cortexassembler.sourceforge.net/index_cortex_var.html 224
Magnolya http://sourceforge.net/projects/magnolya/ 225
mrCaNaVaR http://mrcanavar.sourceforge.net 226
cn.MOPS http://www.bioinf.jku.at/software/cnmops/ 227
5. Repetitive element content
 a. Interspersed repeats RepeatMasker http://www.repeatmasker.org
WindowMasker http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/app/winmasker/ 228
 b. Tandem repeatsc Tandem Repeats Finder http://tandem.bu.edu/trf/trf.html 229
 c. Microsatellites Misa http://pgrc.ipk-gatersleben.de/misa/ 232
GMATo http://sourceforge.net/projects/gmato/files/ 233
 d. Low-complexity regions DustMasker http://www.ncbi.nlm.nih.gov/IEB/ToolBox/CPP_DOC/lxr/source/src/app/dustmasker/ 230
6. Endogenous retrovirus-like elements RetroTector http://retrotector.neuro.uu.se/ 234
LTR_STRUC http://www.mcdonaldlab.biology.gatech.edu/ltr_struc.htm 235
LTR-FINDER http://tlife.fudan.edu.cn/ltr_finder/ 236
LTRharvest http://www.zbh.uni-hamburg.de/?id5206 237
7. Segmental duplications Dupmasker http://www.repeatmasker.org/DupMaskerDownload.html 238
8. MicroRNAs MiRFinder http://www.bioinformatics.org/mirfinder/ 240
miRBase http://www.mirbase.org/ 241
ViennaRNA http://www.tbi.univie.ac.at/RNA/index.html 242
9. Methylation sites Bismark http://www.bioinformatics.babraham.ac.uk/projects/bismark/ 244
BS Seeker http://pellegrini.mcdb.ucla.edu/BS_Seeker/BS_Seeker.html 245, 246
FadE https://code.google.com/p/fade/ 247
10. Gene family expansion and contraction CAFÉ http://sites.bio.indiana.edu/~hahnlab/Software.html 250, 251
11. Evolutionary constrained elements phastCons http://compgen.bscb.cornell.edu/phast/phastCons-HOWTO.html 252
SiPhy http://www.broadinstitute.org/genome_bio/siphy/index.html 254
12. Signature of Selectiond
 a. Ds/Dn ratios PAML 4 http://abacus.gene.ucl.ac.uk/software/paml.html 255
 b. Fst outliers LOSITAN http://popgen.net/soft/lositan/ 256
 c. Homozygous tracks PLINK http://pngu.mgh.harvard.edu/~purcell/plink/ 257
 d. Extended haplotypes rehh http://cran.r-project.org/web/packages/rehh/index.html 258
13. Transcriptome mapping
 a. Assembler Trinity http://trinityrnaseq.sourceforge.net/ 259
 b. Aligner TopHat http://ccb.jhu.edu/software/tophat/index.shtml 260
STAR https://code.google.com/p/rna-star/ 261
14. Comparative assessment; HSBs, EBRs Evolution Highway http://eh-demo.ncsa.uiuc.edu/ 262, 263
Satsuma http://sourceforge.net/projects/satsuma/ 264
SyMAP http://www.agcol.arizona.edu/software/symap/ 265
RACA http://bioen-compbio.bioen.illinois.edu/RACA/ 270
15. Genome alignment MultiZ http://www.bx.psu.edu/miller_lab/dis....012109.tar.gz 52
LASTZ http://www.bx.psu.edu/~rsharris/lastz/ 266
16. Genome browsers GBrowse http://gmod.org/wiki/GBrowse 132
JBrowse http://jbrowse.org/ 133
UCSC Genome Browser http://genome.ucsc.edu 134, 267
Integrative Genomics Viewer (IGV) https://www.broadinstitute.org/igv/home 268, 269
a

See review by Yandell & Ence (6).

b

See review by Zhao et al. (270).

c

See reviews by Merkel & Gemmell (271) and Lim et al. (272).

d

See reviews by Oleksyk et al. (273) and Scheinfeldt & Tishkoff (274).