Metadata-Version: 2.1
Name: sma_finder
Version: 1.0.2
Summary: A tool for diagnosing spinal muscular atrophy (SMA) using exome or genome sequencing data
Home-page: https://github.com/broadinstitute/sma_finder
License: MIT
Description: sma_finder.py: A tool for diagnosing spinal muscular atrophy (SMA) based on exome or genome sequencing data. 
        
        ### Install
        
        ```
        python3 -m pip install sma-finder
        ```
        
        
        ### Usage
        
        ```
        usage: sma_finder [-h] -R REFERENCE_FASTA -g {37,38,T2T} [-o OUTPUT_TSV] [-v]
                          cram_or_bam_path [cram_or_bam_path ...]
        
        positional arguments:
          cram_or_bam_path      One or more CRAM or BAM file paths
        
        optional arguments:
          -h, --help            show this help message and exit
          -R REFERENCE_FASTA, --reference-fasta REFERENCE_FASTA
                                Reference genome FASTA file path
          -g {37,38,T2T}, --genome-version {37,38,T2T}
                                Reference genome version
          -o OUTPUT_TSV, --output-tsv OUTPUT_TSV
                                Output tsv file path
          -v, --verbose         Whether to print extra details during the run
        
        ```
Keywords: Spinal Muscular Atrophy,SMA,SMN,SMN1,SMN2
Platform: UNKNOWN
Classifier: Development Status :: 4 - Beta
Classifier: Intended Audience :: Developers
Classifier: License :: OSI Approved :: MIT License
Classifier: Natural Language :: English
Classifier: Programming Language :: Python :: 3
Classifier: Programming Language :: Python :: 3.7
Classifier: Programming Language :: Python :: 3.8
Classifier: Programming Language :: Python :: 3.9
Classifier: Programming Language :: Python :: Implementation :: CPython
Classifier: Programming Language :: Python :: Implementation :: PyPy
Requires-Python: >=3.7
Description-Content-Type: text/markdown
