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Idea #5335

open

[API] [Documentation] Specify how to find the variants in a gene

Added by Sarah Guthrie about 9 years ago. Updated almost 5 years ago.

Status:
New
Priority:
Normal
Assigned To:
-
Target version:
Tiling Future
Story points:
-

Description

A user should be able to find samples (and the variants each sample has) that have variants in a gene.

Meant to answer the questions:
  • who has a mutation in this gene?
  • (nice, but not necessary) who has a rare mutation in this gene?
  • (nice, but not necessary) who has a frameshift mutation?
  • (nice, but not necessary) who has a nonsense mutation?

This should be do-able using a wrapper around the basic API calls

See documentation in lighting/docs for the basic API calls

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 #1

Updated by Sarah Guthrie almost 9 years ago

  • Subject changed from Add API Call to Lightning: GET variants-in-gene to [API] [Sprite] [Documentation] Implement and describe how to make "GET variants-in-gene" query
  • Description updated (diff)
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 #2

Updated by Sarah Guthrie over 8 years ago

  • Project changed from 39 to Lightning
  • Subject changed from [API] [Sprite] [Documentation] Implement and describe how to make "GET variants-in-gene" query to [API] [Documentation] Specify how to find the variants in a gene
  • Description updated (diff)
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 #3

Updated by Sarah Guthrie over 8 years ago

  • Target version set to Future sprints (Lightning)
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 #4

Updated by Jiayong Li almost 5 years ago

We do have the bed file indicating which tile position is in which gene for hg19 and grch38.

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 #5

Updated by Jiayong Li almost 5 years ago

  • Target version changed from Future sprints (Lightning) to Tiling Future
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