Oxford Nanopore Technologies Plc. fork of Spectre CNV caller
Project description
Spectre - Long read CNV caller
Installation
Recommended ways of installation are using pip or conda or pip package:
pip install ont-spectre
(or)
conda install nanoporetech::ont-spectre
Run from sources
Setup a conda environment for Spectre (copy and paste the following commands)
conda create -n spectre python=3.8.5 pip -y
conda activate spectre
pip install -r requirements.txt
How to run
Spectre need as input:
- The result of Mosdepth (directory)
- Reference genome (can be bgzip compressed)
- Window size used in Mosdepth (Make sure the binsize between Mosdepth and Spectre are matching. We suggest a binsize of 1000 base pairs.)
- VCF file containing SNV
INFO: Make sure to include "/" at the end if you are adding directory paths.
spectre CNVCaller \
--bin-size 1000 \
--coverage mosdepth/sampleid/ \
--sample-id sampleid \
--output-dir sampleid_output_directory_path/ \
--reference reference.fasta.gz \
--snv sampleid.vcf.gz
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ont_spectre-0.2.1.tar.gz
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