scMitoMut

scMitoMut calls mitochondrial lineage-informative mutations in single-cell sequencing data using a beta-binomial distribution for mutation quality assessment.

Key Features:

• Beta-binomial mutation calling: Assigns a mutation quality q-value based on beta-binomial distribution to each mutation at each locus within individual cells.
• Multi-platform compatibility: Supports single-cell DNA sequencing, scATAC sequencing, and 10× Genomics single cell multiome datasets.
• Lineage distance measurement: Measures lineage distance in cells from blood or brain tissues using multiome datasets.
• High computational efficiency: Achieves high memory and CPU efficiency for mtDNA mutation calling.

Scientific Applications:

• Cancer cell line detection: Identifies small proportions of cancer cell lines in mixed populations with superior sensitivity compared to existing methods.
• Tumor mutation profiling: Identifies more mutations than state-of-the-art methods in human colorectal cancer scATAC datasets.
• Lineage tracing in development and stem cell biology: Facilitates precise delineation of mitochondrial mutations for lineage tracing in development, tumor and stem cell biology.

Methodology:

scMitoMut uses a beta-binomial distribution to assign mutation quality q-values to each mutation at each locus within individual cells.