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Support additional required metainformation for ClinVar uploads #1993

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xiamaz opened this issue Sep 19, 2024 · 1 comment
Open

Support additional required metainformation for ClinVar uploads #1993

xiamaz opened this issue Sep 19, 2024 · 1 comment
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enhancement New feature or request

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@xiamaz
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xiamaz commented Sep 19, 2024

Is your feature request related to a problem? Please describe.
Currently clinvar uploads require users to provide additional metainformation for reported variants

Describe the solution you'd like
Currently users need to manually add associated OMIM or OPRHA Disease and inheritance. These are not linked to a reported variant but to a case instead.

Describe alternatives you've considered
Currently this is done by users either in our baserow instance or by supplying specifically formatted case comments.

@xiamaz xiamaz added the enhancement New feature or request label Sep 19, 2024
@holtgrewe
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Postponing.

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Labels
enhancement New feature or request
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