Comments (1)
When there are multiple alleles there end up being multiple ways to write the variant call, especially as the length of the ALT and REF sequence grows. Rather than looking comparing the multiple alternate alleles with the reference value, we should normalise them.
Karthic's note on this:
I'm assuming by match, you mean a simple string comparison, which (as you note) will not return any matches.
We face the same issue when combining multiple VCFs (combining samples each of which might be multi-allelic). We solve this in the same way you describe - normalizing the ALT alleles and then doing string matching. There's optimized code in GenomicsDB for normalizing and matching normalized alleles. It's tuned specifically for the combined VCF case, but if there are other uses I can try to make the interface to the module friendlier.
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Related Issues (20)
- GenomicsDB api returns a null list when querying for variant calls with no rows specified
- Maven wget url invalid HOT 2
- Add ID field and handle duplicate names in INFO/FMT/FILTER fields correctly in vcf2genomicsdb_init
- Excessive logging with --max-alternate-alleles HOT 6
- Support MacOS/Linux arm64 architecture HOT 7
- plink support has introduced mpi dependency in test_gen.cc
- Import should automatically increase buffer size as needed HOT 3
- Allow for multiple inputs(bed, etc.) to be ingested into GenomicsDB
- string_view needs c++-17
- Changes to JsonFormat methods when building with protobuf-java-format 1.3 instead of 1.2
- Missing links to fmt
- Dependencies missing in the pom HOT 2
- Use unflattened genomic coordinates in GenomicsDB error messages
- Compilation on Ubuntu jammy fails in aws-cpp-sdk HOT 4
- Porting to gcc-13 HOT 2
- ERROR: failed to solve: failed to compute cache key HOT 3
- The compatibility of array_schema.cc HOT 1
- Ambiguous call to Assert in the tests HOT 1
- Moving to 24.04 for the docker builds is broken.
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from genomicsdb.