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eQTL analysis using region-based aggregation of rare variants.

Project description


eQTL analysis using region-based aggregation of rare variants.


  • python 3.5
  • pip
  • bx_interval_tree (see installation instructions below)
  • git (optional)


First, install IntervalTree from bx-python. We strongly recommend using a standalone package called bx_interval_tree which is smaller and easier to compile than bx-python.

git clone
cd bx_interval_tree
python install
cd ..

Continue to install AeQTL by choosing one of the options below.

(1) From PyPI

The easiest way to install AeQTL is from PyPI.

pip install aeqtl

(2) From source code

Alternatively, download the source code of AeQTL

git clone

Then install AeQTL

cd AeQTL
pip install .

Optional (but recommended)

Append the path to AeQTL to your PATH environment variable

export PATH=/path/to/AeQTL/bin:$PATH


aeqtl -v <vcf file> -b <bed file> -e <expression file> \
	  -cn <numerical covariates> -cc <categorical covariates> -s <covariate file> \
      -o <output directory>

Input data format

Note: demo input files with compatible format can be found in the "demo" folder

VCF file

A standard multi-sample VCF file with file extension .vcf (or .vcf.gz). Sample IDs in VCF file, expression file, and covariate file should match exactly.

BED file

A BED file (tab separated) with at least four columns and without header. The format of the file should follow:

<chromosome>	<start>		<end>		<region_name>		<tested_genes>

An example row:

chr17			41197693	41197821	BRCA1				BRCA1;SLC25A39;HEXIM2

The first four columns are required. The fifth column is a list of genes separated by ";". If the fifth column (tested_genes) is not provided, AeQTL by default will test each region with every gene from the expression file.

Expression file

A matrix-format, tab separated .tsv file with gene expression from RNA-seq. The first row (header) of the file should follow:

gene_id		<sample_id_1>		<sample_id_2>		<sample_id_3>		...

and the first column of the file should follow:


Covariate file

A tab separated .tsv file with column names corresponding to covariates. A column of sample IDs with column name "sample_id" is required. Covariates entered in AeQTL and their corresponding column names must match exactly. However, the covariate file can contain other unused columns as well. If entering a categorical covariate, please make sure each category has the same value throughout the file (i.e. avoid instances such as having both "FEMALE" and "female" in the same column).

Output data format

A tab separated .tsv file of summary statistics (up to 5 digits after the decimal point). Each row is an eQTL test between a region and a gene. The file contains the following fields:

  • region
  • gene
  • coef_intercept
  • coef_genotype
  • coef_<covariate> (for each covariate)
  • pvalue_intercept
  • pvalue_genotype
  • pvalue_<covariate> (for each covariate)

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