Skip to content

Commit

Permalink
Update README.md
Browse files Browse the repository at this point in the history
  • Loading branch information
NLykoskoufis committed Jan 26, 2021
1 parent f8fe061 commit cb7b486
Showing 1 changed file with 6 additions and 14 deletions.
20 changes: 6 additions & 14 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -8,24 +8,16 @@ The functional enrichment is performed in two steps. The first step creates a fi

## Step by step example

### Step1: Overlap using Bedtools
### Step1: Check that phenotype file is sorted.

First, we need to overlap our variants with the ChIP-seq data we want to perform enrichment.
First, we need to check that the phenotype file is sorted. If not sorted then please sort using either unix-sort or bedtools sort. The file should be in bed format without the header.

```bash
bedtools intersect -a variants.bed.gz -b ChIP_seq_data.bed.gz -wa -wb > overlaped_elements.txt
bedtools sort -i H3K4me3_data.bed > H3K4me3_data_sorted.bed
# or
sort -V -k1 -k2,2n -k3,3n H3K4me3_data.bed > H3K4me3_data_sorted.bed
```
The output file should look like this

```
1 762272 762273 rs3115849 G/A + 1 762183 762956 CTCF
1 762588 762589 rs71507461 G/C + 1 762183 762956 CTCF
1 762591 762592 rs71507462 C/G + 1 762183 762956 CTCF
1 762600 762601 rs71507463 T/C + 1 762183 762956 CTCF
1 762631 762632 rs61768173 T/A + 1 762183 762956 CTCF
1 805555 805556 rs72631880 T/A + 1 804870 805987 CTCF
1 839872 839873 rs192553893 C/T + 1 839340 840863 CTCF
```

### Step2: Create null file

Expand Down Expand Up @@ -65,7 +57,7 @@ By default the window size is set to ± 2'500, the maf window to ±2% and the nu
fenrich enrich \
--nul <null file > \
--qtl <qtls to be enriched> \
--phen <variant overlaped with peaks file> \
--phen <phenotypes> \
--out <out file>
```

Expand Down

0 comments on commit cb7b486

Please sign in to comment.