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_Record attributes for variant type and sub_type #12

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arq5x opened this issue Jan 25, 2012 · 3 comments
Closed

_Record attributes for variant type and sub_type #12

arq5x opened this issue Jan 25, 2012 · 3 comments

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@arq5x
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arq5x commented Jan 25, 2012

I think it would be very helpful to add attributes to the _Record API that report:

  1. The variant type (e.g., "snp", "indel", "sv").
  2. The variant sub_type:
    • if variant == "snp"
      "ts" for transition
      "tv" for transversion
    • if variant == "indel"
      "del" for deletion
      "ins" for insertion

etc.

If you are open to this, I have some existing code for this that I could incorporate.

@jamescasbon
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On Wed, Jan 25, 2012 at 2:28 PM, Aaron Quinlan <
reply@reply.github.com

wrote:

I think it would be very helpful to add attributes to the _Record API
that report:

  1. The variant type (e.g., "snp", "indel", "sv").
  2. The variant sub_type:
    • if variant == "snp"
      "ts" for transition
      "tv" for transversion
    • if variant == "indel"
      "del" for deletion
      "ins" for insertion

etc.

If you are open to this, I have some existing code for this that I could
incorporate.

Sounds good, but would have to be a list since a Record can have multiple
variants, i.e. ALT=['A','.'] is a SNP and a DEL.

I actually would like to have a parse mode where each Record can only have
one variant - would make all this much easier.

@arq5x
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arq5x commented Jan 25, 2012

Yep, a list would be needed in the current framework. How would you propose to handle genotypes representing the different alleles were you to expand multi-allelic variants into discrete Records?

@jamescasbon
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Is this now a duplicate of #31? I think so.

@arq5x arq5x closed this as completed Mar 7, 2012
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