SomaMutDB

SomaMutDB catalogs somatic single nucleotide variations (SNVs) and small insertions and deletions (INDELs) across human tissues to support analysis of mutation accumulation in aging and age-related pathologies.

Key Features:

• Extensive Mutation Catalog: Contains 2.42 million SNVs and 0.12 million INDELs identified across nineteen human tissues and cell types, with functional annotations of mutations.
• Sequencing Technologies: Mutations were detected using single-cell sequencing, clonal lineage analysis, and ultra-high-depth sequencing of small tissue biopsies.
• Age and Environmental Context: Provides data on how somatic mutation frequencies and spectra vary with age and under different environmental stress conditions.
• Mutational Signature Analysis Tools: Includes six analytical tools for analyzing mutational signatures associated with the cataloged data.

Scientific Applications:

• Aging Research: Supports studies of somatic mutation accumulation dynamics in normal human tissues over time.
• Age-Related Disease and Cancer Research: Enables investigation of the roles of somatic mutations in age-related diseases, including cancer.
• Environmental and Causal Studies: Facilitates analysis of relationships between environmental stressors and mutation spectra and exploration of potential causal links between somatic mutations and age-associated conditions.

Methodology:

Mutation detection was performed using single-cell sequencing, clonal lineage analysis, and ultra-high-depth sequencing of small tissue biopsies, and mutational signature analysis was conducted with six analytical tools.