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Add transcripts to consequences #405

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apriltuesday
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@apriltuesday apriltuesday commented Dec 5, 2023

Adds all Ensembl transcript IDs corresponding to the most severe consequence per overlapping gene (or the overall most severe consequence if no genes overlap), when requested by command-line flag.

Example of output XML (compare ClinVar record):

<Measure Type="single nucleotide variant" ID="15941">
  <Name>
    <ElementValue Type="Preferred">NM_000181.4(GUSB):c.1730G&gt;T (p.Arg577Leu)</ElementValue>
  </Name>
  <SequenceLocation Assembly="GRCh38" AssemblyAccessionVersion="GCF_000001405.38" AssemblyStatus="current" Chr="7" Accession="NC_000007.14" start="65964382" stop="65964382" display_start="65964382" display_stop="65964382" variantLength="1" positionVCF="65964382" referenceAlleleVCF="C" alternateAlleleVCF="A"/>
  ...
  [snip]
  ...
  <AttributeSet providedBy="CMAT">
    <Attribute Type="MolecularConsequence">missense variant</Attribute>
    <XRef ID="SO:0001583" DB="Sequence Ontology"/>
    <XRef ID="ENSG00000169919" DB="Ensembl Gene"/>
    <XRef ID="ENST00000304895" DB="Ensembl Transcript"/>
  </AttributeSet>
  <AttributeSet providedBy="CMAT">
    <Attribute Type="MolecularConsequence">missense variant</Attribute>
    <XRef ID="SO:0001583" DB="Sequence Ontology"/>
    <XRef ID="ENSG00000169919" DB="Ensembl Gene"/>
    <XRef ID="ENST00000421103" DB="Ensembl Transcript"/>
  </AttributeSet>
</Measure>

@apriltuesday apriltuesday marked this pull request as ready for review December 11, 2023 14:48
@apriltuesday apriltuesday self-assigned this Dec 11, 2023
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@tcezard tcezard left a comment

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Looks good to me

@apriltuesday apriltuesday merged commit 2b968b4 into EBIvariation:master Dec 19, 2023
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@apriltuesday apriltuesday deleted the consequence-transcripts branch December 19, 2023 08:47
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2 participants