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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.
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
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
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