Mercurial > repos > rdaveau > gfap
annotate gfapts/README @ 1:028f435b6cfb draft default tip
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author | rdaveau |
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date | Fri, 03 Aug 2012 05:50:41 -0400 |
parents | f753b30013e6 |
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rev | line source |
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0 | 1 ## What is gfap ? |
2 The Genomic and Functional Annotation Pipeline (gfap) consists in a set of perl and R tools that | |
3 aim at annotating human genetic SNVs/InDels identified by 2nd-generation sequencing technologies. | |
4 | |
5 ## How does it work ? | |
6 gfap starts with a samtools-formatted VCF-file i.e. the DP4-tag from the INFO field is mandatory. | |
7 gfap performs its annotation in a 4-steps linear procedure i.e.: | |
8 1> SAMVCF.data.parser 2> Known.variants.finder 3> Map.to.genomic.features 4> Map.to.dbNSFP.features | |
9 | |
10 ## Pre-requisites | |
11 In gfap_r1.0_samvcf_data_parser.pl LINE 13 the $rbin assumes that your R binary is set to /usr/bin/R | |
12 So, you will have to properly edit and reset this $rbin if R is installed elsewhere on your system. |