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ANNOTATION.md

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Variants annotation

The script "snpEffAnnotate.py" is designed for variant annotation and effect prediction for variants found by C-Sibelia. It can be launched without arguments from directory with C-Sibelia results:

snpEffAnnotate.py

If you want to specify your own vcf file as input for this tool, type:

snpEffAnnotate.py -i variants.vcf

By default, all outup files are located in './annotation' directory, name of annotated vcf is variant_ann.vcf. You can specify other directory with the "-o" option, if specified directory is not exists it will be created. For example:

snpEffAnnotate.py -i variants.vcf -o annotation

Description of output file format can be found at

http://snpeff.sourceforge.net/SnpEff_manual.html#output

Take into account, that by default, script uses ##assembly field from vcf file to get NCBI database name. For example, a possible value of this field can be "##assembly=gi|57116681|ref|NC_000962.2|".

One more important note about vcf is that #CHROM column must contain cromosome name exactly the same as in snpEff database. For assembly name above it will be "NC_000962".

If you wish, you can specify snpEff database name with the "--db" argument.