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Calculate position to exon/intron boundary #307

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pnrobinson opened this issue Jan 21, 2017 · 5 comments
Open

Calculate position to exon/intron boundary #307

pnrobinson opened this issue Jan 21, 2017 · 5 comments
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@pnrobinson
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For many applications, it would be useful to know the number of nucleotide residues that a variant is locatged away from the exon/intron boundary. This is basically just Delta (exon end, position). We need to consider if we want to take the absolute value of this distance or not--if we do not, then the sign of the distance encodes whether the distance is from the previous acceptor site (positive) or preceding the next donor site (negative).
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@holtgrewe holtgrewe added this to the 0.22 milestone Mar 28, 2017
@holtgrewe holtgrewe modified the milestones: 0.22, 0.23 Apr 12, 2017
@holtgrewe
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I think we want to have the following:

  • query is a function given transcript and genomic position
  • result is a record {transcript, isExon, exonOrIntronNo, delta}
    • if is exon and delta > 0 then we are delta bases right of splice 5' junction of exon (delta = 1 is the first exon base)
    • if is exon and delta < 0 then we are delta bases left of splice 3' junction of exon (delta = -1 is the lastexon base)
    • if is not exon and delta > 0 then we are delta bases right of splice 5' junction of intron (delta = 1 is the first intron base)
    • if is not exon and delta < 0 then we are delta bases left of splice 3' junction of intron (delta = -1 is the last intron)

@pnrobinson please correct

I'll try to implement this small API addition for 0.23 together with stabilizing experimental dbNSFP/generic TSV/VCF support.

@holtgrewe holtgrewe modified the milestones: 0.24, 0.23 Aug 29, 2017
@jasiozaucha
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I would find this feature very useful as well. Please let me know when it's implemented.

@holtgrewe holtgrewe modified the milestones: 0.24, 1.0.0 Feb 7, 2019
@holtgrewe
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holtgrewe commented Feb 7, 2019

Postponing, will welcome tested PRs.

@pnrobinson
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If this is still open I will work on this.

@pnrobinson
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@ielis we have some of this functionality in other code. Can it be transferred easily to Jannovar as library code?

@holtgrewe holtgrewe modified the milestones: 1.0.0, 0.29 Feb 28, 2019
@holtgrewe holtgrewe modified the milestones: 0.29, Backlog May 21, 2019
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