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SomaMutDB: a database of somatic mutations in normal human tissues.
Shixiang Sun1, Yujue Wang1, Alexander Y Maslov1,2
1Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Nucleic Acids Research
|October 11, 2021
Summary
Somatic mutations accumulate with age, contributing to aging and disease. A new database, SomaMutDB, catalogs millions of these mutations across human tissues to aid research.
Area of Science:
- Genetics
- Genomics
- Aging Research
Background:
- De novo mutations accumulate with age in normal tissues, implicated in aging and diseases like cancer.
- Historically, low mutation abundance made detection in normal tissues challenging.
- Advances in single-cell and ultra-high-depth sequencing have enabled detection of somatic mutations.
Purpose of the Study:
- To develop a comprehensive database, SomaMutDB, for cataloging somatic mutations.
- To provide a user-friendly platform for querying and analyzing somatic mutation data.
- To facilitate understanding of somatic mutations' role in human aging and age-related diseases.
Main Methods:
- Developed SomaMutDB, a database integrating 2.42 million single nucleotide variations (SNVs) and 0.12 million small insertions and deletions (INDELs).
- Collected data from nineteen human tissues/cell types, considering age and environmental stress.
- Incorporated a user-friendly interface for data display, querying, and functional annotation.
Main Results:
- SomaMutDB catalogs a substantial volume of somatic mutations (SNVs and INDELs) identified through advanced sequencing techniques.
- The database includes data from diverse human tissues and cell types, analyzed as a function of age and environmental factors.
- SomaMutDB offers six analytical tools for exploring mutational signatures within the cataloged data.
Conclusions:
- SomaMutDB serves as an integrated resource for somatic mutation data.
- The platform aids in understanding the accumulation and impact of somatic mutations during aging.
- This resource is valuable for research into aging and age-related pathologies, including cancer.
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