Project

General

Profile

Actions

Idea #7488

closed

gVCF/VCF Tyler Specification

Added by Sarah Guthrie over 8 years ago. Updated about 6 years ago.

Status:
Closed
Priority:
Normal
Assigned To:
-
Start date:
Due date:
Story points:
1.0

Description

Given a FASTA or a VCF/gVCF, give it a name.

Used by clinical labs to give variants names.

Questions that should be addressed by this story include:

  • How does someone run this Tyler? (Is it a pipeline that someone runs on Arvados or a piece of software that someone downloads?)
  • How does the user specify the reference? (Arvados collection hash, string, implicit in the input file)
  • How does the software behave with poorly sequenced regions?
  • What are the inputs/outputs? (Types of all of them, special requirements)

All these should be documented, at least in this ticket. Preferably the documentation can be done in the github repo: curoverse/lightning/docs (Create a new folder vcf-tyler or similar name), then linked to by this ticket.

Actions

Also available in: Atom PDF