Skip to content
Merged
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
56 changes: 56 additions & 0 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -82,3 +82,59 @@ How to develop on the project locally.
10. Use `python app.py` to run the Flask service app in debug mode. Service will be available at http://localhost:8080/
11. Use `make docker-build` to build a docker image using the current `Dockerfile`.
12. `make docker` will build and run the docker image with the service. Service will be available at http://localhost:8080/


# Runing a minimal configuration example

From the main directory of the repo run:
```
scripts//build-imputation-validation.sh
```

This will pepare and load frequency data into the graph and run imputation on a sample set of subjects.

The execution is driven by the configuration file:
`conf/minimal-configuration.json`

It takes input from this file:
```
data/subjects/donor.csv
```


And genrates an `output` directory with these contents:

```
output
├── don.miss
├── don.pmug
├── don.pmug.pops
├── don.problem
├── don.umug
└── don.umug.pops
```

The .miss and .problem files are cases contain cases that failed due to errors.

The .pmug file contains the Phased Multi-locus Unambiguous Genotypes.

The .umug file contains the Unphased Multi-locus Unambiguous Genotypes.


The format of both files is (csv):

* id
* genotype - in glstring format
* frequency
* rank


The .pmug.pops and .umug.pops contain the corresponding population assignments.

The format of the .pops files is (csv):

* id
* pop1
* pop2
* frequency
* rank