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Created 2014-01-17 15:36:06 | Updated | Tags: official snp variants symbolicallele indel mnp
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The answer depends on what tool we're talking about, and whether we're considering variant discovery or variant manipulation.

GATK variant manipulation tools are able to recognize the following types of alleles:

  • SNP (single nucleotide polymorphism)
  • INDEL (insertion/deletion)
  • MIXED (combination of SNPs and indels at a single position)
  • MNP (multi-nucleotide polymorphism, e.g. a dinucleotide substitution)
  • SYMBOLIC (generally, a very large allele or one that's fuzzy and not fully modeled; i.e. there's some event going on here but we don't know what exactly)

Of our two variant callers, UnifiedGenotyper is the more limited, as it only calls SNPs and indels, and does so separately (even if you run in calling mode BOTH, the program performs separate calling operations internally). The HaplotypeCaller is more sophisticated and calls different types of variants at the same time. So in addition to SNPs and indels, it is capable of emitting mixed records by default. It is also capable of emitting MNPs and symbolic alleles, but the modes to do so are not enabled by default and they are not part of our recommended best practices for the tool.

The GATK currently does not handle SVs (structural variations) or CNVs (copy number variations), but there are some third-party software packages built on top of GATK that provide this functionality. See GenomeSTRiP for SVs and XHMM for CNVs.

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Created 2015-07-24 15:45:37 | Updated | Tags: mnp
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I have many adjacent SNPs in my VCF that I need to merge into MNP. These SNPs can be homozygous or heterozygous. For example: chr1 889158 rs13303056 G C
chr1 889159 rs13302945 A C
The two SNPs above need to be turned into the MNP below: chr1 889158 . GA CC

I tried the option --mergeVariantsViaLD in HaplotypeCaller but as mentioned in other posts, it didn't really work.

What are my options for merging?