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Page Properties

Target release

3.0

Epic

https://gobiiproject.atlassian.net/browse/GE-326

https://ebsproject.atlassian.net/browse/SM-419

Document status

Status
titleDRAFT

Document owner

Yaw Nti-Addae

Designer

Joshua Lamos-Sweeney

Tech lead

Joshua Lamos-Sweeney

Technical writers

QA

Objective

Store INDELs from VCF, hapmaps and InterTek formats for 2 and 4 letter nucleotide data types

Joshua Lamos-Sweeney Yaw Nti-Addae for indels of up to what size, or doesn’t that matter for the look-up table solution?

Requirements

Requirement

User Story

Importance

Jira Issue

Release

1

Place INDELs with Missing

Status
colourRed
titleHIGH

2.2.3

2

 Store INDELs from VCF

 

 

Status
colourGreen
titleMedium

 

 3.0

3

Manage + and -

+ and - should be stored as is and extracted as is

Status
titletest

4

Store INDELs from all other formats

Status
colourRed
titlehigh

3.0

5

Extract data with INDELs

allow user to specify if they want to output INDELs, if not, then all INDELs are replaced with N/N or NN

Status
colourGreen
titlemedium

3.0

6

Web service extract

Modify web service calls to handle INDELs. allow user to specify if they want to output INDELs, if not, then all INDELs are replaced with N/N or NN

Status
colourGreen
titlemedium

3.0

User interaction and design

Open Questions

Question

Answer

Date Answered

Need INDEL definitions from Liz

draft definitions here

View file
namehandling indels.docx

Sample InterTek files with INDELs

View file
name18409 Genotyping-006.017-01 Grid rice indel data.xlsx
View file
nameDW17MSAC-B03-SNPs_Results_GOBIItest_20180215_Success.txt
View file
name17738 Genotyping-012.015-01 Grid.csv

Note, the exact lay-out of the Intertek files could have changed (ie coordinates of first datapoint) but the genotype data show examples of how the indels could look

Sample VCF and other file formats with INDELs

Downstream Pipelines

Pipeline

System/Tool

Notes

QC

KDcompute

DArTview

DArTview

Extract UI

GDM

Add separator appropriately (standard is “/”)

BrAPI extracts

GDM

Add separator appropriately (standard is “/”)

Flapjack bytes