Predict splicing variant effect from VCF
Project description
# mmsplice
[![pypi](https://img.shields.io/pypi/v/mmsplice.svg)](https://pypi.python.org/pypi/mmsplice)
[![travis](https://img.shields.io/travis/s6juncheng/mmsplice.svg)](https://travis-ci.org/s6juncheng/mmsplice)
Predict splicing variant effect from VCF
* Free software: MIT license
## Usage example
------
NOTE: make sure you split and left-normalize the input VCF file.
Check notebooks/example.ipynb
```python
# Import
from mmsplice.vcf_dataloader import SplicingVCFDataloader
from mmsplice import MMSplice, predict_all_table
from mmsplice.utils import max_varEff
# example files
gtf = 'tests/data/test.gtf'
vcf = 'tests/data/test.vcf.gz'
fasta = 'tests/data/hg19.nochr.chr17.fa'
gtfIntervalTree = '../tests/data/test.pkl' # pickle exon interval Tree
# dataloader to load variants from vcf
dl = SplicingVCFDataloader(gtf,
fasta,
vcf,
out_file=gtfIntervalTree,
split_seq=False)
# Specify model
model = MMSplice(
exon_cut_l=0,
exon_cut_r=0,
acceptor_intron_cut=6,
donor_intron_cut=6,
acceptor_intron_len=50,
acceptor_exon_len=3,
donor_exon_len=5,
donor_intron_len=13)
# Do prediction
predictions = predict_all_table(model, dl, batch_size=1024, split_seq=False, assembly=False)
# Summerize with maximum effect size
predictionsMax = max_varEff(predictions)
```
=======
History
=======
0.1.0 (2018-07-17)
------------------
* First release on PyPI.
[![pypi](https://img.shields.io/pypi/v/mmsplice.svg)](https://pypi.python.org/pypi/mmsplice)
[![travis](https://img.shields.io/travis/s6juncheng/mmsplice.svg)](https://travis-ci.org/s6juncheng/mmsplice)
Predict splicing variant effect from VCF
* Free software: MIT license
## Usage example
------
NOTE: make sure you split and left-normalize the input VCF file.
Check notebooks/example.ipynb
```python
# Import
from mmsplice.vcf_dataloader import SplicingVCFDataloader
from mmsplice import MMSplice, predict_all_table
from mmsplice.utils import max_varEff
# example files
gtf = 'tests/data/test.gtf'
vcf = 'tests/data/test.vcf.gz'
fasta = 'tests/data/hg19.nochr.chr17.fa'
gtfIntervalTree = '../tests/data/test.pkl' # pickle exon interval Tree
# dataloader to load variants from vcf
dl = SplicingVCFDataloader(gtf,
fasta,
vcf,
out_file=gtfIntervalTree,
split_seq=False)
# Specify model
model = MMSplice(
exon_cut_l=0,
exon_cut_r=0,
acceptor_intron_cut=6,
donor_intron_cut=6,
acceptor_intron_len=50,
acceptor_exon_len=3,
donor_exon_len=5,
donor_intron_len=13)
# Do prediction
predictions = predict_all_table(model, dl, batch_size=1024, split_seq=False, assembly=False)
# Summerize with maximum effect size
predictionsMax = max_varEff(predictions)
```
=======
History
=======
0.1.0 (2018-07-17)
------------------
* First release on PyPI.
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