is there a special way to encode homopolymer indels in vcf format?
Is there a special way to encode homopolymer indels in vcf format?
In vcf, indels are left-aligned, which means homopolymer indels will not be directly differentiated from other indels from the entry in vcf.
See for example this blogpost:
http://apol1.blogspot.co.uk/2014/05/how-do-i-identify-all-homopolymer-run.html
Is there an established procedure in vcf notation, to describe homopolymer indels in their full homopolymer length instead of left-aligned?
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You could symbolize a new ALT allele in the VCF header:
##ALT=<ID=Poly1,Description="My HomoPolymer Polymorphism 1">
##ALT=<ID=Poly2,Description="My HomoPolymer Polymorphism 2">
and use those Mutations in the VCF ?
chr1 12345 . A <Poly1>,<Poly2> . . GT 1/1 2/2
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