{ "info": { "author": "Kyle S. Smith", "author_email": "kyle.s.smith@ucdenver.edu", "bugtrack_url": null, "classifiers": [ "Programming Language :: Python" ], "description": "Somatic variant identification from unpaired sample\n\nData Format\n===========\n\nInput files mapped reads must be in SAM or BAM format.\n\nKnown germline mutation positions to be excluded must be in a pickled dictionary of dictionaries:\n\n\trecord[(chromosome, position)] = (reference, alternate)\n\t\nA built-in function is included to create this file from a BED file *(see Invocation)*\n\n\nKnown germline mutations to be used for the prior distribution must be in bed format:\n\n\thttps://raw.githubusercontent.com/kylessmith/SomVarIUS/master/example/chr20_dbsnp.bed\n\t\nThe reference fasta must be in FASTA format.\n\n\nThe copy number segment file must be in BED format (first columns are chrome, start, stop)::\n\n chr1 11873 14409\n\nNOTE: The BAM and BED files are assumed to be *sorted* in the same way, however a\n built-in function is included to do this *(see Invocation)*\n\nInvocation\n==========\n\nRunning the following command will the available functions::\n\n $ SomVarIUS -h\n\nGives::\n\n\tpositional arguments:\n\t {call_mutations,sort,pickle,clones,query_mutations}\n\t call_mutations flag to call mutations\n\t sort flag to sort bam file and bed file by name\n\t pickle flag to store the pickled germline positions from bed\n\t\tclones flag to classify as clone or sub-clone\n\t\tquery_mutations flag to query given mutations in the bam\n\n\toptional arguments:\n\t -h, --help show this help message and exit\n\nTo call mutations the following command will show available inputs::\n\n\t$ SomVarIUS call_mutations -h\n\nGives::\n\n\t --bam BAM input bam file\n\t --ref REF reference fasta file\n\t --out OUT output file\n\t --rna_seq RNA_SEQ RNA-seq bam file name\n\t --germ_pos GERM_POS pickled hapmap file\n\t --dbsnp_bed DBSNP_BED\n\t dbsnp bed file name\n\t --copy_bed COPY_BED copy number bed file name\n\t --min_reads MIN_READS\n\t minimum base coverage (default=10)\n\t --min_support MIN_SUPPORT\n\t minimum number of reads supported alternate allele\n\t (default=4)\n\t --min_af MIN_AF minimum allele frequency (default=0.05)\n\t --min_pvalue MIN_PVALUE\n\t minimum pvalue (default=0.001)\n\t --min_fr MIN_FR minimum reverse/forward read ratio (default=0.05)\n\t --min_qual MIN_QUAL minimum mean quality for alternate allele (default=25)\n\t --min_se MIN_SE minimum probability not sequencing error\n\t (default=0.999)\n\t --min_hetero MIN_HETERO\n\t minimum probability not germline (default=0.95)\n\t --ref_filter flag to filter by reference fasta (default=False)\n\t --binom flag to use binomial test instead of beta-binomial\n\t (default=False)\n\t --min_mapq MIN_MAPQ minimum mapping quality (default=55)\n\t --min_baseq MIN_BASEQ\n\t minimum base quality (default=13)\n\t --chrom CHROM Chromosome name to look at\n\t --start START starting position\n\t --end END ending position\n\t --dist DIST write the beta binomial parameters to a file\n\nTo sort a bam file and bed file by name the following command will show available inputs::\n\n\t$ SomVarIUS sort -h\n\nGives::\n\n\t --bam BAM input bam file\n\t --bam_out BAM_OUT name of sorted bam file\n\t --dbsnp DBSNP input dbsnp bed file\n\t --dbsnp_out DBSNP_OUT\n\t name of sorted dbsnp file\n\nTo create a pickle of bed file positions the following command will show available inputs::\n\n\t$ SomVarIUS pickle -h\n\nGives::\n\n\t --dbsnp DBSNP input dbsnp bed file\n\t --dbsnp_out DBSNP_OUT\n\t name of pickled dbsnp file\n\nTo classify mutations as clonal or sub-clonal::\n\n\t$ SomVarIUS clones -h\n\nGives::\n\n\t --vcf VCF vcf file\n\t --t T tumor purity (default=1.0)\n\t --gmm flag to classify by gaussian mixture model (default=False)\n\nTo query a list of mutations in bed format (chrom start end ref alt)::\n\n\t$ SomVarIUS query_mutations -h\n\t\nGives::\n\n\t --bam BAM input bam file\n\t --out OUT output file\n\t --muts MUTS mutation bed file\n\t --min_reads MIN_READS\n\t minimum base coverage (default=10)\n\t --min_support MIN_SUPPORT\n\t minimum number of reads supported alternate allele\n\t (default=4)\n\t --min_mapq MIN_MAPQ minimum mapping quality (default=55)\n\t --min_baseq MIN_BASEQ\n\t minimum base quality (default=13)\n\t\t\nQuickStart\n==========\n\nIf your files are sorted in the same way and you want to call somatic mutations in all chromosomes.\n\nsomatic mutations\n-----------------\n::\n\n\t$ SomVarIUS call_mutations \\\n\t\t--bam test.bam \\\n\t\t--ref test.fa \\\n\t\t--out test_output.txt \\\n\t\t--germ_pos dbsnp_pos.pickle \\\n\t\t--dbsnp_bed test_dbsnp.bed \\\n\t\t--ref_filter\n\nThe output will be shown in VCF format.\n\nExample\n=======\n\nTo run the example files, from the examples directory first run::\n\n\t$ SomVarIUS pickle \\\n\t\t--dbsnp chr20_dbsnp.bed\n\t\t--dbsnp_out chr20_dbsnp.pickle\n\t\t\nThen run::\n\n\t$ SomVarIUS call_mutations \\\n\t\t--bam chr20.bam \\\n\t\t--ref chr20.fa \\\n\t\t--out chr20.vcf \\\n\t\t--germ_pos chr20_dbsnp.pickle \\\n\t\t--dbsnp_bed chr20_dbsnp.bed \\\n\t\t--dist dist.txt \\\n\t\t--min_pvalue 0.05 \\\n\t\t--ref_filter\n\t\t\nThe first time this is run the program will detect the files have not been index and index them.\nThe results will be in *chr20.vcf* file and the *dist.txt* will have the estimated parameters \nfor the fitted beta-binomial distribution. The arguments used are recorded in the *chr20_args.txt*\nfile.\n\nInstallation\n============\n\npip can be used to install by::\n\n\t$ pip install SomVarIUS\n\t\nor download from github and run::\n\n\t$ python setup.py install\n\nIf you dont already have numpy and scipy installed, it is best to download\n`Anaconda`, a python distribution that has them included. \n\n https://continuum.io/downloads\n\nDependencies can be installed by::\n\n pip install -r requirements.txt\n\nThe program also depends on Samtools which is available from https://github.com/samtools/samtools", "description_content_type": null, "docs_url": null, "download_url": "UNKNOWN", "downloads": { "last_day": -1, "last_month": -1, "last_week": -1 }, "home_page": "https://github.com/kylessmith/SomVarIUS", "keywords": null, "license": "UNKNOWN", "maintainer": null, "maintainer_email": null, "name": "SomVarIUS", "package_url": "https://pypi.org/project/SomVarIUS/", "platform": "UNKNOWN", "project_url": "https://pypi.org/project/SomVarIUS/", "project_urls": { "Download": "UNKNOWN", "Homepage": "https://github.com/kylessmith/SomVarIUS" }, "release_url": "https://pypi.org/project/SomVarIUS/1.1/", "requires_dist": null, "requires_python": null, "summary": "A Python utility for calling somatic mutations from a BAM or SAM file", "version": "1.1" }, "last_serial": 2610333, "releases": { "0.1": [ { "comment_text": "", "digests": { "md5": "c0a10e9b875f2f07f11b868f9a09ed3b", "sha256": "1c7fa8e63c45601a2813e9e92b03a82b3d541174fe55eb3e9af9d4b4f24f2e5a" }, "downloads": -1, "filename": "SomVarIUS-0.1.tar.gz", "has_sig": false, "md5_digest": "c0a10e9b875f2f07f11b868f9a09ed3b", "packagetype": "sdist", "python_version": "source", "requires_python": null, "size": 179258, "upload_time": "2015-09-23T19:34:47", "url": "https://files.pythonhosted.org/packages/45/b7/2b0d2b7d70781081b5d1a12a6f306d4baff0bfce764a876501a7fb571eb3/SomVarIUS-0.1.tar.gz" } ], "1.1": [ { "comment_text": "", "digests": { "md5": "c176cc1de9d69272e733e2b6730b1a11", "sha256": "a2a03b6b0f864a3f71032454246dd2ffcea5a201fcf225d00fb60d9703c692bf" }, "downloads": -1, "filename": "SomVarIUS-1.1.tar.gz", "has_sig": false, "md5_digest": "c176cc1de9d69272e733e2b6730b1a11", "packagetype": "sdist", "python_version": "source", "requires_python": null, "size": 179286, "upload_time": "2015-09-23T19:45:45", "url": "https://files.pythonhosted.org/packages/40/03/6f341993c04eaf317f3c74173b1505a56d194a9a9c571344a27cb631af9c/SomVarIUS-1.1.tar.gz" } ] }, "urls": [ { "comment_text": "", "digests": { "md5": "c176cc1de9d69272e733e2b6730b1a11", "sha256": "a2a03b6b0f864a3f71032454246dd2ffcea5a201fcf225d00fb60d9703c692bf" }, "downloads": -1, "filename": "SomVarIUS-1.1.tar.gz", "has_sig": false, "md5_digest": "c176cc1de9d69272e733e2b6730b1a11", "packagetype": "sdist", "python_version": "source", "requires_python": null, "size": 179286, "upload_time": "2015-09-23T19:45:45", "url": "https://files.pythonhosted.org/packages/40/03/6f341993c04eaf317f3c74173b1505a56d194a9a9c571344a27cb631af9c/SomVarIUS-1.1.tar.gz" } ] }