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Add description for hybrid input option
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xqwen committed Nov 13, 2024
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17 changes: 14 additions & 3 deletions docs/enloc_run.md
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Expand Up @@ -27,10 +27,21 @@ GWAS annotation files formatted for previous versions of FastENLOC remain compat
For combined summary statistics files, run colocalization analysis use the following command:

```
fastenloc -sum combined_summary_input_file -total_variants
fastenloc -sum combined_summary_input_file -total_variants total_number_of_variants
```

Required option:

where
+ ``-sum``: specify the combined summary statistics input file


## Running with Hybrid Input

For hybrid input, where the eQTL file is in probabilistic fine-mapping format and the GWAS file is in summary statistics format, use the following command to run FastENLOC:

```
fastenloc -eqtl eqtl_annotation -gs gwas_summary_stats_file -total_variants total_number_variants [-t tissue_name]
```

Note that

+ ``-gs``: specify the summary statistics file containing only GWAS/complex trait information.
16 changes: 13 additions & 3 deletions docs/input.md
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Expand Up @@ -17,18 +17,18 @@ All input files can be either compressed (by gzip) or uncompressed, FastENLOC ca



## Single-SNP Summary Statistics Input
## 1. Single-SNP Summary Statistics Input

The single-SNP summary statistics input should be provided in a tabular file with the following format:
```
Locus_id SNP_id beta_eqtl se_eqtl beta_gwas se_gwas
```
The ``Locus_id`` can be used to represent a gene in an eQTL study. While the signs of ``beta_eqtl`` and ``beta_gwas`` are not critical for the colocalization analysis, it is strongly recommended that both are defined using the same reference allele.

An example input file can be downloaded from [here]().
An example input file can be downloaded from [here](https://github.com/xqwen/fastenloc/tree/master/sample_data/coloc_test_data.sum).


## Probabilistic Fine-mapping Input
## 2. Probabilistic Fine-mapping Input

The input for probabilistic fine-mapping follows the standard VCF format, where association information for colocalization analysis is recorded in the INFO field. Separate files are required for molecular and complex traits. Most importantly, FastENLOC expects molecular and complex trait tiles to have matching variant IDs.
An example input line is shown below:
Expand Down Expand Up @@ -107,4 +107,14 @@ susie2enloc -dir susie_rst_dir -vcf snp_vcf_file [-tissue tissue_name] | gzip -
```


## 3. Hybrid Input

In many applications, users may want to use our GTEx probabilistic annotation for eQTLs along with summary statistics for GWAS data. In earlier versions of FastENLOC, this required processing GWAS summary statistics with TORUS. However, starting from version 3.1, this step is no longer necessary, as we have integrated the primary functionality of TORUS directly into FastENLOC.

To use this functionality, users can provide GWAS summary statistics in the following tabular format:

```
Locus_id SNP_id beta_gwas se_gwas
```

This format closely resembles both the combined summary statistics input and the input format for TORUS.

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