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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.
The text was updated successfully, but these errors were encountered:
reece
transferred this issue from ga4gh/variant-representation
May 3, 2019
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.
The text was updated successfully, but these errors were encountered: