[Bioc-devel] restrictToSNV for VCF

Julian Gehring julian.gehring at embl.de
Wed Mar 19 00:04:11 CET 2014


Hi Valerie,

I would consider G>C an SNV, G>TT not.  But I assume that there exists
no clear consensus on this.  How about a flag that let's the second pass
as SNV optionally, so everybody can get what one needs?

Best wishes
Julian


On 18/03/14 18:36, Valerie Obenchain wrote:
> Hi,
> 
> I've added a restrictToSNV() function to VariantAnnotation (1.9.46). The
> return value is a subset VCF object containing SNVs only. The function
> operates on CollapsedVCF or ExapandedVCF and the alt(VCF) value must be
> nucleotides (i.e., no structural variants).
> 
> A variant is considered a SNV if the nucleotide sequences in both
> ref(vcf) and alt(x) are of length 1. I have a question about how
> variants with multiple 'ALT' values should be handled.
> 
> Should we consider row 4 a SNV? One 'ALT' is length 1, the other is not.
> 
> ALT <- DNAStringSetList("A", c("TT"), c("G", "A"), c("TT", "C"))
> REF <- DNAStringSet(c("G", c("AA"), "T", "G"))
>>> DataFrame(REF, ALT)
>> DataFrame with 4 rows and 2 columns
>>              REF                ALT
>>   <DNAStringSet> <DNAStringSetList>
>> 1              G                  A
>> 2             AA                 TT
>> 3              T                G,A
>> 4              G               TT,C
> 
> 
> Thanks.
> Valerie
> 
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