Project

General

Profile

Actions
Copy link

Feature #488

open

Allow non-nsSNP variants

Added by Tom Clegg over 14 years ago. Updated almost 14 years ago.

Status:
New
Priority:
Normal
Assigned To:
Tom Clegg
Target version:
-
Start date:
Due date:
% Done:

0%

Estimated time:
Billable:
Estimatedhours:
Hours:
Totalhours:
Resolution:
Story points:
-

Description

Need to stop restricting database to nsSNP variants.
  • Support lookup/create by dbSNP id
  • Support lookup/create by {chromosome, position, ref_seq, variant_seq}
Considerations:
  • Is "strand" helpful? Or should "chr1:1234:-:A:C" just be described as "chr1:1234:T:G"?
  • How to deal with different references?
    • Include a reference identifier in database key -- "hg18:chr:pos:refseq:varseq"
    • Extend database schema to include multiple identifiers per locus, so "hg18:chr1:1234" and "hg19:chr1:1235" can map to the same variant ID
  • Ensure only one page per variant. E.g., if rs1234 maps to chr1:1234:T:G and causes ABCD-A1T, then there should only be one GET-Evidence page regardless of which order those identifiers are looked up / used to create a page.
Actions
Copy link

Also available in: Atom PDF