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In the playground, the CNV "copies" attribute is represented through an integer. However, with frequently unknown exact copy number (e.g. high level amplifications, underlying aneuploidy in cancer...), it is necessary to capture relative changes compared to the baseline.
Proposal for Discussion:
Use of an object with both categorical representation (i.e., trough an ontology) and numerical one
{
cn_state: {
term_id: 'SO:0001742',
term: 'copy number gain'
},
cn_count: 5,
cn_confidence: {},
cn_baseline: {} # the ploidy of the genome being analysed; could e.g. be "1" for X in XY
}
The text was updated successfully, but these errors were encountered:
reece
transferred this issue from ga4gh/variant-representation
May 3, 2019
In the playground, the CNV "copies" attribute is represented through an integer. However, with frequently unknown exact copy number (e.g. high level amplifications, underlying aneuploidy in cancer...), it is necessary to capture relative changes compared to the baseline.
Proposal for Discussion:
The text was updated successfully, but these errors were encountered: