MitoSAlt is a pipeline to identify large deletions and duplications in human and mouse mitochondrial genomes from next generation whole genome/exome sequencing data. The pipeline is capable of analyzing any circular genome in principle, as long as a proper configuration file is provided.
Features
- Clinical Sequencing
- Mitochondrial disease
- Molecular signature
Categories
Bio-InformaticsLicense
GNU General Public License version 3.0 (GPLv3)Follow MitoSAlt
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User Reviews
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Thanks for developing this pipeline! Really useful for the mitochondrial community. Cheers, ClaudiaReply from MitoSAlt