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Adjust ClinVar XML generation to latest update #677

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holtgrewe opened this issue Sep 20, 2022 · 2 comments · Fixed by #678
Closed

Adjust ClinVar XML generation to latest update #677

holtgrewe opened this issue Sep 20, 2022 · 2 comments · Fixed by #678
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enhancement New feature or request

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@holtgrewe
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Is your feature request related to a problem? Please describe.
The ClinVar upload does not work properly, see below.

Describe the solution you'd like
Adjust the output XML format to the new, needed format.

Describe alternatives you've considered
N/A

Additional context

Thank you for the interest in submitting to ClinVar.

We updated our processing of clinical features in March 2022 to now include the qualifiers "present", "absent"
and "not tested". For example, instead of:

<TraitSet>
    <TraitSetType val_type="name">Finding</TraitSetType>
    <Trait>
        <TraitType val_type="name">Finding</TraitType>
        <XRef db="HP" id="HP:0001332"/>
    </Trait>
</TraitSet>

the new XML structure is

 <TraitSet>
    <TraitSetType val_type="name">Finding</TraitSetType>
    <Trait ClinicalFeaturesAffectedStatus="present">
        <TraitType val_type="name">Finding</TraitType>
        <XRef db="HP" id="HP:0011332"/>
    </Trait>
</TraitSet>        

If you are providing the HPO identifier, <Name> is not needed.

Also note, please include sub_id="SUB12068620" in the ClinvarSubmissionSet element.

Please update your file, delete the existing one, and upload the update.
@holtgrewe holtgrewe added the enhancement New feature or request label Sep 20, 2022
@holtgrewe
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holtgrewe commented Sep 20, 2022

Resolution Proposal
Simply adjust the ClinVar XML generation code in clinvar_export.clinvar_xml.

Affected Components
VarFish Server

Affected Modules/Files
clinvar_export/clinvar_xml.py

Required Architectural Changes
None

Required Database Changes
None

Backport Possible?
Yes

Resolution Sketch
See above.

@holtgrewe
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ClinVar will shut down their XML support and is not updating their XSD any more. We will need to eventually migrate to using their API. For now, we will ignore the following issue in XSD validation

  • Element 'Trait', attribute 'ClinicalFeaturesAffectedStatus': The attribute 'ClinicalFeaturesAffectedStatus' is not allowed.

holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
@holtgrewe holtgrewe linked a pull request Sep 20, 2022 that will close this issue
holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
holtgrewe added a commit that referenced this issue Sep 20, 2022
Closes: #677
Related-Issue: #677
Projected-Results-Impact: none
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