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Wrong variant mapping result for identity variant #466

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icebert opened this issue Oct 5, 2017 · 1 comment
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Wrong variant mapping result for identity variant #466

icebert opened this issue Oct 5, 2017 · 1 comment
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@icebert
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icebert commented Oct 5, 2017

For identity variant, the replace reference function in variant mapper only changes the ref of edit, causing the ref and alt discordant.

Example code:

import hgvs.parser
import hgvs.assemblymapper
import hgvs.dataproviders.uta

hp = hgvs.parser.Parser()

hdp = hgvs.dataproviders.uta.connect()

am = hgvs.assemblymapper.AssemblyMapper(hdp, normalize=False)


var = 'NM_001292004.1:c.376='

var_c = hp.parse_hgvs_variant(var)

var_g = am.c_to_g(var_c)

str(var_g)

NC_000005.10:g.74715659delins

The correct mapping result should be NC_000005.10:g.74715659= instead of NC_000005.10:g.74715659delins.

@icebert icebert added the bug Something isn't working label Oct 5, 2017
@icebert icebert self-assigned this Oct 5, 2017
@icebert
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icebert commented Oct 9, 2017

I ignored the case that the referecne sequence of transcripts and genome may be different. When variants occured on such sites, the mapped result of ident var may not be ident var. I will make a new pull request.

@reece reece closed this as completed in #468 Nov 3, 2017
reece pushed a commit that referenced this issue Nov 3, 2017
)

Closes #466

* Fill reference before variant mapping

* Remove unnecessary fill_ref in c_to_p mapper
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