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ngs_sequence_alignment_and_variant_calling [2014/11/17 13:09]
sebastien.renaut [Microbial diversity / ecology]
ngs_sequence_alignment_and_variant_calling [2014/11/26 09:58] (current)
sebastien.renaut [Bioinformatics tools geared specifically towards gene expression (RNAseq) analyses]
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 ==== Data manipulation ==== ==== Data manipulation ====
   * [[http://​broadinstitute.github.io/​picard/​|Picard Tools]] A set of Java command line tools for manipulating high-throughput sequencing data (HTS) data and formats.   * [[http://​broadinstitute.github.io/​picard/​|Picard Tools]] A set of Java command line tools for manipulating high-throughput sequencing data (HTS) data and formats.
 +  * [[http://​www.bioinformatics.babraham.ac.uk/​projects/​fastqc/​|FASTQC]] A quality control tool for high throughput sequence data.
 ==== Sequence alignment ==== ==== Sequence alignment ====
   * [[https://​www.broadinstitute.org/​gatk/​|The Genome Analysis Toolkit (GATK)]] -Software package developed at the Broad Institute to analyze high-throughput sequencing data.   * [[https://​www.broadinstitute.org/​gatk/​|The Genome Analysis Toolkit (GATK)]] -Software package developed at the Broad Institute to analyze high-throughput sequencing data.
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   * [[http://​bioinf.spbau.ru/​spades|SPADES]] for plastid reads, dealing quite well with uneven coverage   * [[http://​bioinf.spbau.ru/​spades|SPADES]] for plastid reads, dealing quite well with uneven coverage
 ==== Variant calling (SNPs / short indels) ==== ==== Variant calling (SNPs / short indels) ====
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   * [[http://​www.htslib.org/​|samtools]] -Samtools is a suite of programs for interacting with high-throughput sequencing data.   * [[http://​www.htslib.org/​|samtools]] -Samtools is a suite of programs for interacting with high-throughput sequencing data.
-  * [[https://​www.broadinstitute.org/​gatk/​|The Genome Analysis Toolkit (GATK)]]+  * [[https://​www.broadinstitute.org/​gatk/​|The Genome Analysis Toolkit (GATK)]] ​There are a variety of tools, with a primary focus on variant discovery and genotyping as well as strong emphasis on data quality assurance.
  
 ==== Bioinformatics tools geared specifically towards GBS and RAD data ==== ==== Bioinformatics tools geared specifically towards GBS and RAD data ====
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   * [[http://​sourceforge.net/​projects/​tassel/​|tassel]] -TASSEL is a bioinformatics software package that can analyze diversity for sequences, SNPs, or SSRs.   * [[http://​sourceforge.net/​projects/​tassel/​|tassel]] -TASSEL is a bioinformatics software package that can analyze diversity for sequences, SNPs, or SSRs.
   * [[http://​creskolab.uoregon.edu/​stacks/​|stacks]] -Software pipeline for building loci from short-read sequences, such as those generated on the Illumina platform. Stacks was developed to work with restriction enzyme-based data, such as RAD-seq, for the purpose of building genetic maps and conducting population genomics and phylogeography.   * [[http://​creskolab.uoregon.edu/​stacks/​|stacks]] -Software pipeline for building loci from short-read sequences, such as those generated on the Illumina platform. Stacks was developed to work with restriction enzyme-based data, such as RAD-seq, for the purpose of building genetic maps and conducting population genomics and phylogeography.
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 ==== Bioinformatics tools geared specifically towards gene expression (RNAseq) analyses ==== ==== Bioinformatics tools geared specifically towards gene expression (RNAseq) analyses ====
    * [[http://​ccb.jhu.edu/​software/​tophat/​index.shtml|tophat]] -Aligns RNA-Seq reads to mammalian-sized genomes using the ultra high-throughput short read aligner Bowtie, and then analyzes the mapping results to identify splice junctions between exons. Usefull for analysing splice variants and their expression from NGS datasets    * [[http://​ccb.jhu.edu/​software/​tophat/​index.shtml|tophat]] -Aligns RNA-Seq reads to mammalian-sized genomes using the ultra high-throughput short read aligner Bowtie, and then analyzes the mapping results to identify splice junctions between exons. Usefull for analysing splice variants and their expression from NGS datasets
 +   * There are also several R packages listed [[http://​qcbs.ca/​wiki/​resources_for_r|here]] are specifically geared towards gene expression analyses
 ==== All-in-one proprietary software ==== ==== All-in-one proprietary software ====
   * [[http://​www.geneious.com/​|geneious]] ​ -Comprehensive bioinformatics software platform.   * [[http://​www.geneious.com/​|geneious]] ​ -Comprehensive bioinformatics software platform.
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 ==== Microbial diversity / ecology ==== ==== Microbial diversity / ecology ====
 +  * See also [[http://​qcbs.ca/​wiki/​guide_to_amplicon_sequencing_experiment|this]] page on the wiki.
   * [[http://​www.mothur.org/​wiki/​Main_Page|mothur]] ​ -A comprehensive bioinformatics software platform for microbial ecology (eg. 16S rRNA gene sequences diversity)   * [[http://​www.mothur.org/​wiki/​Main_Page|mothur]] ​ -A comprehensive bioinformatics software platform for microbial ecology (eg. 16S rRNA gene sequences diversity)
    * [[http://​qiime.org/​|Quantitative Insights Into Microbial Ecology (Qiime)]] -Another comprehensive bioinformatics software platform for microbial ecology ​ primarily based on high-throughput amplicon sequencing data (such as SSU rRNA). Also has a GUI.    * [[http://​qiime.org/​|Quantitative Insights Into Microbial Ecology (Qiime)]] -Another comprehensive bioinformatics software platform for microbial ecology ​ primarily based on high-throughput amplicon sequencing data (such as SSU rRNA). Also has a GUI.
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 +=== Others ===
 +  * [[http://​weizhong-lab.ucsd.edu/​cd-hit/​|cd-hit]] Clustering and comparing protein or nucleotide sequences