SNP calling III – The indel problem

SNPs can often be falsely called around indels. In particular, if indels are near the start or end of a read the read is often incorrectly aligned. Here is an example of how things can go wrong from a spruce alignment. Below, at site 109 there is a TT insertion in the reads relative to the reference and there is no true SNP at this site. However, this individual was called as a het (C/T) because of the reads that end in the middle of the insertion. For these reads the penalty for a single mismatch to the reference is less than introducing a gap.

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