filter "isSnp" for VCF
1
2
Entering edit mode
@timotheeflutre-6727
Last seen 5.6 years ago
France

About the VariantAnnotation package, the document filterVcf compiled on October 13, 2015 shows the following function on page 4:

isSnp <- function(x) {
  refSnp <- nchar(ref(x)) == 1L
  a <- alt(x)
  altSnp <- elementLengths(a) == 1L
  ai <- unlist(a[altSnp]) # all length 1, so unlisting is 1:1 map
  altSnp[altSnp] <- nchar(ai) == 1L & (ai %in% c("A", "C", "G", "T"))
  refSnp & altSnp
}

On line 6, I don't understand why it's not:

altSnp <- nchar(ai) == 1L & (ai %in% c("A", "C", "G", "T"))

That is, why is it necessary to write altSnp[altSnp] ?

Moreover, if I understand well the code above, it returns TRUE only if x corresponds to a biallelic SNP for which the alternate allele is A, C, G or T. Just in case, it may be relevant to check that the ref allele also is A, C, G or T.

variantannotation filtervcf vcf • 1.3k views
ADD COMMENT
3
Entering edit mode
@michael-lawrence-3846
Last seen 3.0 years ago
United States

It is altSnp[altSnp] because ai aligns with a[altSnp], and a aligns with altSnp. But you're right, the code is only considering biallelic SNPs. It could be rewritten using the atomic list API as:

refSnp <- nchar(ref(x)) == 1L
altSnp <- any(nchar(alt(x)) == 1L & alt(x) %in% DNA_LETTERS)
refSnp & altSnp

But really, it should just be calling the built-in isSNV function. I was looking at that though, and for CollapsedVCF it also only considers biallelic SNPs by default. By setting singleAltOnly=FALSE, it does the same as the above code. But I wonder whether it should instead return a LogicalList in the case of CollapsedVCF, since alt is a list. I also noticed that it might be broken for the case of "*" int alt, although I didn't test it.

No need to check ref(x) for the DNA letters, because it is a DNAStringSet.

ADD COMMENT
0
Entering edit mode

I didn't see the isSNV function, thanks for mentioning it, it's much simpler. Can you edit the "filterVcf.pdf" document?

ADD REPLY

Login before adding your answer.

Traffic: 766 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6