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reads2snps

From second generation sequencing reads to variant calling. Also variant calling using pairwise whole genome alignment.

Usage

To map reads to a target genome and call variants type make map or make breseq. To get base-by-base reads coverage information type make coverage. To run a whole genome alignment (with a mask on regions with low coverage), type make align; this assumes that reads from which de novo assembly has been derived are present. If they are not present, but a mask is known, just add a mask.bed file to the top-level directory. If neither masks or reads are available, the whole genome alignment can be run using the make alignnoreads.

Prerequisites

  • Reference genome in Fasta and GenBank format
  • Map and aligning using reads:
    • fastqc
    • seq_crumbs
    • python and biopython
    • seqtk
    • bwa
    • samtools
    • picard
    • gatk
    • freebayes
    • vcflib
    • breseq
  • Whole genome alignment:
    • mummer
    • bedtools
    • parsnp

Acknowledgements

Thanks to Omar Wagih (@omarwagih) for some hints on the map pipeline.

Copyright

Copyright (C) <2015> EMBL-European Bioinformatics Institute

This program is free software: you can redistribute it and/or modify it under the terms of the GNU General Public License as published by the Free Software Foundation, either version 3 of the License, or (at your option) any later version.

This program is distributed in the hope that it will be useful, but WITHOUT ANY WARRANTY; without even the implied warranty of MERCHANTABILITY or FITNESS FOR A PARTICULAR PURPOSE. See the
GNU General Public License for more details.

Neither the institution name nor the name reads2snps can be used to endorse or promote products derived from this software without prior written permission. For written permission, please contact [email protected].

Products derived from this software may not be called reads2snps nor may reads2snps appear in their names without prior written permission of the developers. You should have received a copy of the GNU General Public License along with this program. If not, see http://www.gnu.org/licenses/.