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'NM_000492.3:c.1155_1156dupTA' # correct resolves to ('chr7', 117182104, 'A', 'AAT')
# Same as above but without optional trailing base - issue #32
'NM_000492.3:c.1155_1156dup' # Error - resolves to ('chr7', 117182107, 'A', 'A')
# Genomic coordinate of above
"chr7:g.117182108_117182109dup" # Error - resolves to ('7', 117182109, 'A', 'A')
# Genomic coordinate of above but shifted with optional base suffix
"chr7:g.117182105_117182106dupAT" # Error - resolves to ('7', 117182106, 'T', 'T')
I would do a pull request but I've been working with existing pull request #25 and it doesn't look like this project is being updated anymore. If you merge #25 please ping this issue and I'll make a pull request.
Fixes are to remove test for if self.kind == 'c': in get_coords()
The text was updated successfully, but these errors were encountered:
davmlaw
changed the title
Incorrect HGVS to VCF conversion for some indels edge cases
Incorrect HGVS to VCF conversion for some indel edge cases
Sep 25, 2019
Sorry it appears that some of my bugs have already been reported in #32
davmlaw
changed the title
Incorrect HGVS to VCF conversion for some indel edge cases
Incorrect HGVS to VCF conversion for some genomic indels
Sep 25, 2019
Hi, genomic indels are often wrong because get_coords() adjustment of start/end is only done for indels if self.kind == 'c'
Testing against examples from the ClinGen allele registry:
http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000492.3%3Ac.1155_1156dupTA
I would do a pull request but I've been working with existing pull request #25 and it doesn't look like this project is being updated anymore. If you merge #25 please ping this issue and I'll make a pull request.
Fixes are to remove test for
if self.kind == 'c':
in get_coords()I've patched my fork: https://github.com/sacgf/hgvs
The text was updated successfully, but these errors were encountered: