SNPTools: pileline for NGS SNP analysis author Yi Wang @ Fuli Yu' Group Baylor College of Medicine Human Genome Sequencing Center. All rights reserved. Workflow summary: bamqc->pileup->snprob->snpcall ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ name bamqc 0.1 func show summary information of each bam author Yi Wang @ Fuli Yu' Group @ BCM usage bamqc [option] [bam1 bam2...] -l batch BAMs -m filter read by mask (1796) -o filter read by operations rate > orate (0.15) ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ name pileup 0.1 func multiple BAM pileup compression author Yi Wang @ Fuli Yu' Group @ BCM usage Pileup [bam1 bam2...] ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ name snpcall 0.1 func genotype calling by artifical evolution author Yi Wang @ Fuli Yu' Group @ BCM usage SNPCall [options] -d relative SNP density to Sanger sequencing (0.33) -c specify number of SNPs in the core chunk (256) -f specify number of SNPs in each side (128) -b burn-in generations (64) -m sampling generations (192) -k assign known genotypes ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ name snprob 0.1 func population based SNP detection author Yi Wang @ Fuli Yu' Group usage SNProb [options] -n bin size for genotype calling (20480) -s set significance level (2) -m set mapping bias cutoff (1e-6) -a set AA prior alt allele rate (0.995) -h set AB prior alt allele rate (0.500) -b set BB prior alt allele rate (0.010) -p set prior alt rate confidence (100) -f set Fst of the sample (0.13) -o set outlier probability (1e-6) ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ Installation User should install GSL first. Ubuntu: sudo apt-get install libgsl0-dev If GSL is not installed in default directory, please modify makefile: Add -Ixxx/GSL/include after INCLUDE= Add -Lxxx/GSL/lib after LIBS= The software is based on samtools's API library: libbam.a User should enter 'samtools' directory and type the following two commands: make clean make Finally go back to 'source' directory and type make Email yw2@bcm.edu if you meet installation problems. ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ License Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the 'Software'), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions: The above copyright notice and this permission notice shall be included in all copies or substantial portions of the Software. THE SOFTWARE IS PROVIDED 'AS IS', WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE.