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updated readme
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edm1 committed Oct 3, 2018
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4 changes: 4 additions & 0 deletions environment.yaml
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channels:
- bioconda
- conda-forge
dependencies:
- python=3
- pandas
- scipy
- numpy
- seaborn
- matplotlib
- snakemake
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44 changes: 21 additions & 23 deletions readme.md
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Finemapping
===========
Finemapping pipleine
====================

Finemapping pipeline for summary statistics. Currently only implements credible set analysis.
Finemapping pipeline for Open Targets Genetics. The pipeline is currently bespoke to the Neale lab UK Biobank summary statistics (version 1) and must be run on a cluster using `bsub`.

Note: This readme is outdated (June 2018)
A generalised finemapping/colocalisation pipeline is under development ([analysis plan](https://docs.google.com/document/d/1m2XFvovzXtFKoH9J-aZriH69k54Wa5cYwQJEh7VrJAs/edit?usp=sharing)).

TODO:
- Write documentation
- Get proportion of cases for each study
- When using better reference, RAM requirements will need increasing
- When using non-UKB sum stats, proportion of cases needs to be calculated from somewhere
### Contents
- [Requirements](#requirements)
- [Usage](#usage)
- [Methods](#methods)

Issues:
- Chromosome X currently isn't working (error code 134), there are no X chrom SNPs in input
- Stage 1 currently fails if no SNPs are selected

Questions:
- What do we want the threshold for defining independent loci to be? Currently set at 0.8.

Requirements
- GCTA v1.91.1b (there is a bug in v1.91.2b which causes GCTA slct to produce unexpected results)
### Requirements
- GCTA >= v1.91.3 (there is a bug in v1.91.2b which causes GCTA slct to produce unexpected results)
- `conda`

### Usage

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# Alter configuration file
nano configs/config.yaml
# Execute workflow (locally)
snakemake -p define_loci
snakemake -p finemap_loci
# Execute steps sequentially (on cluster using BSUB)
bsub < 1a.define_loci.bsub_wrapper.sh
bsub < 2a.finemap_loci_multisig.bsub_wrapper.sh
bsub -J collate_results -n 4 -q normal -R "select[mem>16000] rusage[mem=16000] span[hosts=1]" -M16000 snakemake -s 3.collate_finemapping_results.Snakefile --cores 4
# Execute workflow (on Sanger farm)
bsub < bsub_wrapper.sh
```

### Methods

#### Overview

![workflow-overview](overview_figure.png)

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