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Normalize copy number counts with a range for the number of copies #707

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theferrit32 opened this issue Nov 10, 2022 · 3 comments
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clinvar Clinvar data exchange and reporting

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@theferrit32
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theferrit32 commented Nov 10, 2022

The genegraph.annotate.cnv module will need to be expanded to accept two values for the copies term, a min and max copy count.

Example:
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4
https://www.ncbi.nlm.nih.gov/clinvar/variation/563685/

In these cases, the total_copies field returned should be a vector of two integers. When only one value for copy count is in the input, the total_copies field can be a single integer, as it is now.

Those with multiple (2) copy count values will then be passed downstream to be normalized as the min and max of a definite range.
https://vrs.ga4gh.org/en/metaschema-update/terms_and_model.html#absolutecopynumber

@theferrit32 theferrit32 added the clinvar Clinvar data exchange and reporting label Nov 10, 2022
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I've added some code locally to do this. But the variation-normalization API doesn't support it yet.

GRCh37/hg19 10q26.3(chr10:131243689-132131959)x3,4
-> 
{:assembly "GRCh37",
 :reference "hg19",
 :cytogenetic_location "10q26.3",
 :chr "10",
 :start 131243689,
 :end 132131959,
 :total_copies (3 4)}

@theferrit32 theferrit32 changed the title Parse ambiguous absolute copy number variant strings Normalize copy number counts with a range for the number of copies May 8, 2023
@theferrit32 theferrit32 self-assigned this May 8, 2023
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@theferrit32
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Closing as obsolete. Will parse either through XML fields or an upstream pre-parsing method

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