User Story #6325 (closed)
Opened 8 years ago
Closed 6 years ago
HIC: Generating a best reference genome scenario
| Reported by: | adjudson | Owned by: | |
|---|---|---|---|
| Priority: | major | Milestone: | Unscheduled |
| Component: | General | Keywords: | n.a. |
| Cc: | hic@… | Story Points: | n.a. |
| Sprint: | n.a. | Importance: | n.a. |
| Total Remaining Time: | n.a. | Estimated Remaining Time: | n.a. |
Description
The researchers have proposed this as a good way of demonstrating the power of architecture in supporting their research. The aim is to generate a 'best reference genome' by overlaying the metabochip data onto the gwas data (1000 genome). Once this stage is done then the genetics data can be used in conjunction with the clinical data to see if there are any correlations.
The group have done this previously, but with subsequent improvements in the calling algorithms and reference genomes it is useful to repeat the exercise. A kin to version control of the reference GoDARTS genetics data.
The previous exercise generated 80,000 common SNPS. They would expect to increase this to 100-120,000 SNPs for the combined population of 10,500 individuals.
Once the reference genome has been developed they would use it as normal to do a statin response or lipid related analysis. We will then be able to compare these results with ones they've done before.
Attachments (1)
Change History (5)
Changed 8 years ago by adjudson
comment:1 Changed 8 years ago by jmoore
- Cc hic@… added
- Milestone changed from Unscheduled to OMERO-Beta4.3.2
- Priority changed from minor to major
Moving to milestone:OMERO-Beta4.3.2 (like all omero/hic tickets currently) and adding new mail alias.
comment:2 Changed 8 years ago by jburel
- Milestone changed from OMERO-Beta4.3.2 to OME-5.0
comment:3 Changed 7 years ago by jmoore
- Milestone changed from OMERO-Beta4.4 to Unscheduled
Moving to "Unscheduled" as 4.4.0 release approaches.
comment:4 Changed 6 years ago by jamoore
- Resolution set to invalid
- Status changed from new to closed
Closing all specific HIC tasks.
Notes from focus group with Colin Palmer & Kaixin Zhou