SMA Finder
JSON →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.
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API endpoints
full doc /v1/registry/sma-finder
install /v1/registry/sma-finder/install
compatibility /v1/registry/sma-finder/compatibility