Dear all,
Two questions:
Annovar and annotation of splicing variants
Does anyone know how annovar annoatates a variant as splicing effect?
Is it just 'x' bases into/before an exon, or is there more to it than that?
If thats how it works, does anyone know how many bases into the exon/intron it treats as ?splicing site ?
Annotation of intronic variants with HGVS-style nomenclature.
I have not been able to get Annovar to annoate a variant more than a few bases into an intron with its appropriate HGVS-term, eg c.1234-12C>T.
Its does exonic variants fine, but I want to select variants falling with, say 20 bases before/into an exon to manually check for splicing effects (eg branch site, whcih may be further out from an intron/exon boundary than +/- 2-3 bases)
Ensembl's variant predictor tool seems to be able to annotate into the intron, just wonderd if Annovar can also.
I am using annovar with a vcf and running the summarise_annovar.pl script
Thanks,
Chris
Two questions:
Annovar and annotation of splicing variants
Does anyone know how annovar annoatates a variant as splicing effect?
Is it just 'x' bases into/before an exon, or is there more to it than that?
If thats how it works, does anyone know how many bases into the exon/intron it treats as ?splicing site ?
Annotation of intronic variants with HGVS-style nomenclature.
I have not been able to get Annovar to annoate a variant more than a few bases into an intron with its appropriate HGVS-term, eg c.1234-12C>T.
Its does exonic variants fine, but I want to select variants falling with, say 20 bases before/into an exon to manually check for splicing effects (eg branch site, whcih may be further out from an intron/exon boundary than +/- 2-3 bases)
Ensembl's variant predictor tool seems to be able to annotate into the intron, just wonderd if Annovar can also.
I am using annovar with a vcf and running the summarise_annovar.pl script
Thanks,
Chris
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