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Question about CNVs with additional alterations #45

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ahwagner opened this issue Apr 30, 2019 · 1 comment
Closed

Question about CNVs with additional alterations #45

ahwagner opened this issue Apr 30, 2019 · 1 comment

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@ahwagner
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Conversation with @ratsch today described a requirement for consideration under our current model:

Given a Copy Number Gain (n=5), how to represent an alteration that occurs on only some of the copies (e.g. a SNV found on 2 of the copies)? One proposed way is to represent a CNV as a collection of haplotypes, where each haplotype represents either an altered or unaltered copy.

A second approach could be to optionally specify a genotype within a CNVState to represent this complexity.

@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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