Conbase

Conbase detects clonal somatic mutations and genotypes in single-cell DNA sequencing data using phased read information across multiple samples.

Key Features:

• Unsupervised Somatic Mutation Discovery: Identifies clonal somatic mutations without supervision using information from multiple samples.
• Phased Read Integration: Utilizes phased read data across samples to increase confidence in somatic variant detection and genotype assignment.
• Variant Calling and Genotyping: Performs somatic variant calling and genotype inference in single-cell sequencing datasets.
• High Specificity Detection: Demonstrates improved false discovery rate and specificity compared with alternative variant-calling methods.

Scientific Applications:

• Single-Cell Genomics: Identifies somatic mutations in single-cell DNA sequencing datasets.
• Clonal Mutation Analysis: Detects clonal mutations in cell populations such as fibroblasts and lymphocytes.
• Genetic Variation Studies: Investigates mutation patterns in cultured cells and human donor-derived cell populations.

Methodology:

Conbase integrates phased read data across multiple samples to perform unsupervised detection of somatic variants and genotype inference in single-cell DNA sequencing data.