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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 | |||||||
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1 | Place INDELs with Missing |
| 2.2.3 | ||||||||
2 | Store INDELs from VCF |
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| 3.0 | ||||||
3 | Manage + and - | + and - should be stored as is and extracted as is |
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4 | Store INDELs from all other formats |
| 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 |
| 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 |
| 3.0 |
User interaction and design
Open Questions
Question | Answer | Date Answered | ||||||||||||
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Need INDEL definitions from Liz | draft definitions here
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Sample InterTek files with INDELs |
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 |
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QC | KDcompute | |
DArTview | DArTview | |
Extract UI | GDM | Add separator appropriately (standard is “/”) |
BrAPI extracts | GDM | Add separator appropriately (standard is “/”) |
Flapjack bytes |