Story #5335

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

Added by Sarah Guthrie about 4 years ago. Updated 7 days ago.

Status:
New
Priority:
Normal
Assigned To:
-
Target version:
Start date:
03/18/2015
Due date:
03/18/2015
% Done:

0%

Estimated time:
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

History

#1 Updated by Sarah Guthrie almost 4 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)

#2 Updated by Sarah Guthrie over 3 years ago

  • Project changed from Curoverse Science 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)

#3 Updated by Sarah Guthrie over 3 years ago

  • Target version set to Future sprints (Lightning)

#4 Updated by Jiayong Li 7 days ago

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

#5 Updated by Jiayong Li 7 days ago

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

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