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Format of CNV "copies" attribute should be open for unknown, directional changes #37

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mbaudis opened this issue Jul 23, 2018 · 1 comment

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@mbaudis
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mbaudis commented Jul 23, 2018

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
}
@reece reece transferred this issue from ga4gh/variant-representation May 3, 2019
@reece reece added the CNV label May 6, 2019
@ga4gh ga4gh locked and limited conversation to collaborators May 6, 2019
@reece
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reece commented May 6, 2019

Please use #46 for a consolidated discussion of CNV requirements.

@reece reece closed this as completed May 6, 2019
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