X-Git-Url: http://source.jalview.org/gitweb/?a=blobdiff_plain;f=help%2Fhelp%2Fhtml%2Ffeatures%2Fimportvcf.html;fp=help%2Fhelp%2Fhtml%2Ffeatures%2Fimportvcf.html;h=bbc9f78a872a6b508763b8bb16f52325e2d7dd60;hb=7bb2a1c049e7b7be9c04012ce90afc173b81eb1a;hp=0000000000000000000000000000000000000000;hpb=baa296ab473ea58fc16277ee36e033b02cadb49d;p=jalview.git diff --git a/help/help/html/features/importvcf.html b/help/help/html/features/importvcf.html new file mode 100755 index 0000000..bbc9f78 --- /dev/null +++ b/help/help/html/features/importvcf.html @@ -0,0 +1,74 @@ + + + +Importing Variants from VCF + + +

+ Importing Genomic Variants from VCF +

+ +

Jalview can annotate nucleotide sequences associated with + genomic loci with features representing variants imported from VCF + files. This new feature in Jalview 2.11, is currently tuned to work + best with tab indexed VCF files produced by the GATK Variant + Annotation Pipeline (with or without annotation provided by the + Ensembl Variant Effect Predictor), but other sources of VCF files + should also work.

+

+ If your sequences have genomic loci, then a Taxon + name and chromosome location should be shown in + the Sequence Details report and the Sequence ID tooltip (providing + you have enabled it via the submenu in the View + menu). Jalview matches the assembly information provided in the VCF + file to the taxon name, using an internal lookup table. If a match + is found, Jalview employs the Ensembl API's lift-over services to + locate your sequences' loci in the VCF file assembly's reference + frame. If all goes well, after loading a VCF, Jalview will report + the number of variants added as sequence features via the alignment + window's status bar. These are added by default when loci are + retrieved from Ensembl. +

+

+ Working with variants from organisms other than + H.sapiens. +

+
    +
  1. Look in your VCF file to identify keywords in the + ##reference header that define what species and assembly name the + VCF was generated against.
    2. +
  2. Look at ensembl.org to identify the species' short name, + and the assembly's unique.
    3. +
  3. Add mappings to the VCF_SPECIES and VCF_ASSEMBLY + properties in your .jalview_properties file. For example:
    +VCF_SPECIES=1000genomes=homo_sapiens,c_elegans=celegans
+VCF_ASSEMBLY=assembly19=GRCh37,hs37=GRCh37


    These allow + annotations to be mapped from both Human 1000genomes VCF files and + C.elegans files. +
    4. +
+ Work in Progress! +

VCF support in Jalview is under active development. Please get + in touch via our mailing list if you have any questions, problems or + otherwise find it useful !

+ +