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  • Snpeff / Annovar with Cricetulus griseus

    I'm trying to annotate a batch of SNPs from chok1 cells. Unfortunately, the database for them isn't included with either snpeff or annular. I have reference sequence, and gene files in gff, fasta, and genbank format from chogenome.org.

    Sadly, whenever I try to create a new database in snpeff I get "file not found" errors, as seen below. (with ls at the end to show that the program is clearly a filthy liar).

    Annovar requires a refgene file which I've never heard of before, and can't find a way to convert anything to.

    Any ideas / other annotators that might work with nonstandard organisms?

    Code:
    dhcp-128-32-88-64:snpeff BIOINFORMATICS$ java -Xmx4g -jar snpEff.jar build -gff3 -v cho
    00:00:00.000	Building database for 'cho'
    Reading GFF3 data file  : '/Users/BIOINFORMATICS//snpEff/data/cho/genes.gff'
    	Reading genes       : java.lang.RuntimeException: File not found '/Users/BIOINFORMATICS//snpEff/data/cho/genes.gff'
    	at ca.mcgill.mcb.pcingola.util.Gpr.reader(Gpr.java:466)
    	at ca.mcgill.mcb.pcingola.util.Gpr.reader(Gpr.java:437)
    	at ca.mcgill.mcb.pcingola.snpEffect.factory.SnpEffPredictorFactoryGff.readGff(SnpEffPredictorFactoryGff.java:219)
    	at ca.mcgill.mcb.pcingola.snpEffect.factory.SnpEffPredictorFactoryGff.create(SnpEffPredictorFactoryGff.java:96)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEffCmdBuild.createSnpEffPredictor(SnpEffCmdBuild.java:96)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEffCmdBuild.run(SnpEffCmdBuild.java:240)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEff.run(SnpEff.java:257)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEff.main(SnpEff.java:75)
    java.lang.RuntimeException: Error reading file '/Users/BIOINFORMATICS//snpEff/data/cho/genes.gff'
    java.lang.RuntimeException: File not found '/Users/BIOINFORMATICS//snpEff/data/cho/genes.gff'
    	at ca.mcgill.mcb.pcingola.snpEffect.factory.SnpEffPredictorFactoryGff.create(SnpEffPredictorFactoryGff.java:134)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEffCmdBuild.createSnpEffPredictor(SnpEffCmdBuild.java:96)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEffCmdBuild.run(SnpEffCmdBuild.java:240)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEff.run(SnpEff.java:257)
    	at ca.mcgill.mcb.pcingola.snpEffect.commandLine.SnpEff.main(SnpEff.java:75)
    00:00:00.167	Finishing up
    dhcp-128-32-88-64:snpeff BIOINFORMATICS$ cd data
    dhcp-128-32-88-64:data BIOINFORMATICS$ cd cho
    dhcp-128-32-88-64:cho BIOINFORMATICS$ ls
    genes.gb	genes.gff	genes.txt	sequences.fa
    dhcp-128-32-88-64:cho BIOINFORMATICS$ pwd
    /Users/BIOINFORMATICS/snpeff/data/cho
    dhcp-128-32-88-64:cho BIOINFORMATICS$
    Last edited by nasepu; 11-08-2012, 03:42 PM.

  • #2
    CooVar does not depend on external databases and works directly from GFF files.

    Background Evaluating the impact of genomic variations (GV) on protein-coding transcripts is an important step in identifying variants of functional significance. Currently available programs for variant annotation depend on external databases or annotate multiple variants affecting the same transcript independently, which limits program use to organisms available in these databases or results in potentially incorrect or incomplete annotations. Findings We have developed CooVar (Co-occurring Variant Analyzer), a database-independent program for assessing the impact of GVs on protein-coding transcripts. CooVar takes GVs, reference genome sequence, and protein-coding exons as input and provides annotated GVs and transcripts as output. Other than similar programs, CooVar considers the combined impact of all GVs affecting the same transcript, generating biologically more accurate annotations. CooVar is operated from the command-line and supports standard file formats VCF, GFF/GTF, and GVF, which makes it easy to integrate into existing computational pipelines. We have extensively tested CooVar on worm and human data sets and demonstrate that it generates correct annotations in only a short amount of time. Conclusions CooVar is an easy-to-use and lightweight variant annotation tool that considers the combined impact of GVs on protein-coding transcripts. CooVar is freely available at http://genome.sfu.ca/projects/coovar/ .

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