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hg19 annotation with sequence ontology

I wonder if an annotation database exists which contains all known feature across the whole genom hg19 using keywords from sequence ontology ?

ontology annotation

2 answers

If you are interested in variants annotated according to the SO terms, download the VEP file from the Ensembl FTP for GRCh37 (=hg19).

Thanks , it exacly what I need ! I give you all my gold !

You can use Variant Effect Predictor or SnpEff to annotate Sequence Ontology features.

http://www.ensembl.org/info/genome/variation/predicted_data.html

http://snpeff.sourceforge.net/

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