norm remove dupes doesn't handle symbolic and non-symbolic duplicates
Nobody has claimed this yet.
Assessment
- Difficulty
- 4/5
- Estimated time
- 3-5 days
- Newbie friendliness
- 30/100
- Issue type
- Bug
- Clarity
- Mostly clear
- Activity status
- Stale
- Tech stack
- c
- Domain
- bioinformatics
Research direction
Start with the norm/remove-dupes behavior described in this issue and compare the two supplied VCF records, then review the related context in issue #2182. Done means records representing the same underlying mutation are recognized as duplicates when one uses a symbolic representation and the other does not, with behavior verified against this example.
Written by the indexing model from the issue text.
Description
Hi, I discovered this while testing #2182 - it wasn't covered in the initial issue, so raising a new one
Norm/remove dupes doesn't handle a VCF with 2 records that refer to the same underlying mutation, but with symbolic and non-symbolic representations.
Example:
##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##contig=<ID=NC_000003.11,length=198022430>
##reference=file:/data/human/hg19.fa
#CHROM POS ID REF ALT QUAL FILTER INFO
NC_000003.11 128204048 . GAGGAGATCAGGGAGCCATCGAAATCCCAAGATCAGACTGATTGAGTTAGAGACCCAGATTCCTTAATGGTCTGGAACCTCCGGAGTGCCTGAAACATGCACACACAACATGCACACAGACACACGTATACACATGCACACACGCTCCCAAACACATGCACATACAGAGTCACTTCCCTCGCTTCACATACTAAGTCCTGAGGTGGCTTGAATTTTCACTTAAGATTCAGGGAGGGAAAGGGGGAATTCCTGTTCTATGTTCTGGTCAGGCAGTGACCAACCCTGGGGCAAGGAACTGAACTTTGGGGGTACACTGGAAGCACTTAAGAAAATGGCAAAAGTTTTAGAGTCTCCTCTCCCTGACCCGGGGGTCTCAAACATCTGCTGGGGGCTATTAGAGCGAGACATCACCCATCCCCAGATCTGGGAAACCAACACTGCCACCTCTCCCAAGTCACAGCTCCCCACCACAAAAACGCAAATGCTCCCCTCTTCCACGAAGTCCCCAGCACCTGCCTTTACCTGAACAGGAACGAGCCTTGCTGCGCTGCTTAGGGGTGAAGCTGGAGGCCGGTCCCCCCAGGAAGCCTCCGGGGTGGAAGAGTCCGCTGCTGTAGTCGTGGGCAGCCGCCGGCACATAGGAGGGGTAGGTGGGGATGGGGTGGTGTGTAGCAGGCTGGGTGCCCATAGTAGCTAGGCCTGGGCGCAGGGGACTGCCACTTTCCATCTTCATGCTCTCCGTCAGTGACACCTGGTACTTGACGCCGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAGGGTCAGGAGACACTTCTTTGGGTGGCGTGGGTGGGAAGCCGAAAAGGTGGGAGCCAGAGTGGGCTGCTGTAGGGGTGAGGGAGGCCACTGAGCTCCCGCTGCCTCCCCCGCTCCCACCCCCAGCCCCTGGGTACACAGAGAGTGGGCCTCCAGGGCCTCCAGCAGCTGAGGGGTGCAGTGGCGTCTTGGAGAAGGGGCTCACGGTCCAGGGGTTGTGGTGGTGGGCCGCAGCGGCAGAGAGGGCTGCTTTGCCCCCGTCCAGCCAGGGCAAACCCGGGCTGTGCAACAAGTGTGGGCGGCACATCTGGCCTCCGGTCAGGCGGGCTGCGGGCAAAGAGAGAGAGGATCAGGGTGGGCAGAAAGATCAGGGTAGGCAGAGCTAGGGACGCCCCTGACAGACATTGAGATCACGACTCCCAGAACCAGCAGTCATCCCCTCCCCAAAGAAAGCCAGAAACATAATACCCCACCGGTAATAATCAGGAATGTCAGTCCAAGCTGAAGGACAAGTGGCATAGAAGGAACCCCACCGGACAGACCCTACAGGGAACCCTCACAGGCCAGCTGGAAGTGGGCAGAAACCCTGTGGGTCCCAGACCCTCCCCAATCGGCCGCTGCTCCCACCTCTCCCGCCCCAATTTTTCAGCAGCTCGATTCCTGCGGATCCTACATCCGGGAAGCAAGCAGACGGGCCCTCCTCCCCTCCCTCGCCTGGCGCGCGGCGCCTGGGTTCTCATCACCACGGGCCCAGTGCTCACCGTGCGCGGGGCTGTAGGAGACGCGCGCCCGCGCGTGAGCGGGGTTGGCATAGTAGGGGTTGCCCTGCGAGTCGAGGTGATTGAAGAAGACGTCCACCTCGTCTGGAGGCAGCAGCTGCGCGGGTTCCATGTAGTTGTGCGCCAGGCCCGGGTGGTGTGAGTCGGGGTGCTGCGCATTCAGCACGGCCGGGTGCGCCATCCAGCGCGGCTGCTCGGGCGCCACCTCCATGGCCGGCGGCGGCGGCTCAGGGTCTGGGTGCAGACGGCAACGGCCCTGCGCGAGGAAGGGGGAGTGAGGCGTGCCGCCAGCGCCTGACACCCCCCAAAGTCCCACCACGAGGTGTCCCGCACGCCACGGAGCCCCAGCCCAGATCCGGCGAGAAAGAGCACCAGTCCCGGGTGGGAGGAAAGCCCAAGGCTCAAAACGAAAGGAAGGCGGGGGAGGGGGTTCAGCCACGCACACTCACGTGGTGACCCGCGGCTCCAGAATCACACACCCGTGCACATGGGGTCACGCCCGGGGACGGGTCCCGACACCAGTGACCCCAACAAACGCACAGAGCAGCACTTCAGTCAGACACTCACACTGAGCCCCCCCGCCCGGTAGACAAACACATGAACACAGACTCAAAAGTTGGAGACAGGCGCCCGGGCACCCAGTGTGGCACTTGATCCCAGCGACACGCACACACCCACACTTGGCGCCAGATACACATACTGATCTCAACCCCGAAAACATGCACACGCAGCCCCCTGAGCGCAGTACTAAGCGGCACAATCAGGACCTCTCAACAAAGCACACCAAAGCAGTCGCCCGCAGCCTGGCCCCCCGCCCTAAGTCCCCCCAGAGTCCCCTCAAAGCTAGGAGCGCCCCAGGCCCCCAGCCGGCTCTCAAACCCCAAACTTACACACGCAGCCGTGGGGAGGGGAGGGACTCGGCCTCTGAGAGTGAAGGAGTTCCGGCGGGAGCCCCGAGGGCGACGGGCCCAGGGACAGCACGTCCGGAGGCTGGCGGGGCTTACAGGGTAGGAGCTGGGGGTAGAGTGCGCCTCGGCCTCGGGCCCTCCCG G . PASS .
NC_000003.11 128204048 . G <DEL> . PASS END=128206714;SVTYPE=DEL;SVLEN=-2666
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