{"library":"sma-finder","title":"SMA Finder","description":"SMA Finder is a Python-based command-line tool designed for diagnosing spinal muscular atrophy (SMA) using exome or genome sequencing data. It automates the analysis of sequencing files to identify genetic markers associated with SMA. The current version is 1.4.4, with releases occurring as significant new features or improvements are added, rather than on a strict cadence.","language":"python","status":"active","last_verified":"Fri Apr 17","install":{"commands":["pip install sma-finder"],"cli":{"name":"sma-finder","version":"sh: 1: sma-finder: not found"}},"imports":["from sma_finder import cli"],"auth":{"required":false,"env_vars":[]},"quickstart":{"code":"sma_finder --input_bam_files /path/to/your_sample.bam \\\n             --reference_fasta /path/to/your_reference.fa \\\n             --output_dir ./results \\\n             --reference_name hg38","lang":"bash","description":"Run SMA Finder from the command line, providing input BAM/CRAM files, a reference genome FASTA, and an output directory. The `--reference_name` flag helps label outputs and, for v1.2+, informs the tool if it needs to try multiple reference fastas.","tag":null,"tag_description":null,"last_tested":null,"results":[]},"compatibility":null}