Skip to content

Commit

Permalink
Update README.md
Browse files Browse the repository at this point in the history
  • Loading branch information
Jaganathan, Kishore authored and GitHub Enterprise committed Nov 15, 2018
1 parent f6bc5c9 commit 707ad70
Showing 1 changed file with 7 additions and 7 deletions.
14 changes: 7 additions & 7 deletions README.md
Original file line number Diff line number Diff line change
Expand Up @@ -8,24 +8,24 @@ The simplest way to install SpliceAI is through pip:
pip install spliceai
```

SpliceAI requires [tensorflow](https://www.tensorflow.org/install/)>=1.2.0,
which is best installed separately via pip: `pip install tensorflow`. See
tensorflow website for complete installation options.

Alternately, SpliceAI can be installed from the [github repository](https://github.com/Illumina/SpliceAI.git):
```sh
git clone https://github.com/Illumina/SpliceAI.git
cd SpliceAI
python setup.py install
```

SpliceAI requires [tensorflow](https://www.tensorflow.org/install/)>=1.2.0,
which is best installed separately via pip: `pip install tensorflow`. See
the TensorFlow website for other installation options.

### Usage
SpliceAI can be run from the command line:
```sh
spliceai -I input.vcf -O output.vcf -R genome.fa [-A annotations.tsv]

# or you can pipe input and output VCFs
cat input.vcf | spliceai -R genome.fa > output.vcf
cat input.vcf | spliceai -R genome.fa [-A annotations.tsv] > output.vcf
```
Options:
- **-I**: The input VCF with variants of interest. Only SNVs and simple indels
Expand All @@ -41,7 +41,7 @@ Options:
`spliceai/annotations/GENCODE.v24lift37` in repository as template for
creating custom annotations).

Details of SpliceAI info field:
Details of SpliceAI INFO field:

| ID | Description |
| -------- | ----------- |
Expand All @@ -58,7 +58,7 @@ Details of SpliceAI info field:

**Delta score** of a variant ranges from 0 to 1, and can be interpreted as the probability of the variant being splice-altering. In the paper, a detailed characterization is provided for 0.2 (high recall/likely pathogenic), 0.5 (recommended/pathogenic), and 0.8 (high precision/pathogenic) cutoffs. **Delta position** conveys information about the location where splicing changes relative to the variant position (positive values are upstream of the variant, negative values are downstream).

For the sake of convenience, we have precomputed scores for all possible single nucleotide variants near genes, which are available [here](https://basespace.illumina.com/s/5u6ThOblecrh).
For the sake of convenience, we have precomputed scores for all possible single nucleotide variants within genes, which are available [here](https://basespace.illumina.com/s/5u6ThOblecrh).

### Examples
A sample input file and the corresponding output file can be found at `examples/input.vcf` and `examples/output.vcf` respectively. The output `SpliceAI=T|RYR1|0.22|0.00|0.91|0.70|-107|-46|-2|90` for the variant `19:38958362 C>T` can be interpreted as follows:
Expand Down

0 comments on commit 707ad70

Please sign in to comment.