MitoScope: a comprehensive mitochondrial genome analysis workflow for long-read sequencing data

MitoScope, an end-to-end long-read mitochondrial genome workflow, achieves high sensitivity and precision on SMaHT Network benchmarking while reducing artifacts from repeats and NUMTs.

• Why it matters: Short-read mtDNA studies can miss variants and generate mapping artifacts or false heteroplasmies, limiting reliable catalogs linked to cancer, metabolic syndromes, and neurodegeneration.
• What they did: The workflow combines mtDNA-read selection, heteroplasmic variant calling, assembly, copy number estimation, read-level haplotyping, and NUMT profiling, then benchmarks on SMaHT Network data.
• The result: On SMaHT benchmarking, performance is high in sensitivity and precision, enabling detection of known mitochondrial biology useful for variant interpretation, aging, and human disease.

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