SomaMutDB: a database of somatic mutations in normal human tissues.
Shixiang SunYujue WangAlexander Y MaslovXiao DongJan VijgPublished in: Nucleic acids research (2021)
De novo mutations, a consequence of errors in DNA repair or replication, have been reported to accumulate with age in normal tissues of humans and model organisms. This accumulation during development and aging has been implicated as a causal factor in aging and age-related pathology, including but not limited to cancer. Due to their generally very low abundance mutations have been difficult to detect in normal tissues. Only with recent advances in DNA sequencing of single-cells, clonal lineages or ultra-high-depth sequencing of small tissue biopsies, somatic mutation frequencies and spectra have been unveiled in several tissue types. The rapid accumulation of such data prompted us to develop a platform called SomaMutDB (https://vijglab.einsteinmed.org/SomaMutDB) to catalog the 2.42 million single nucleotide variations (SNVs) and 0.12 million small insertions and deletions (INDELs) thus far identified using these advanced methods in nineteen human tissues or cell types as a function of age or environmental stress conditions. SomaMutDB employs a user-friendly interface to display and query somatic mutations with their functional annotations. Moreover, the database provides six powerful tools for analyzing mutational signatures associated with the data. We believe such an integrated resource will prove valuable for understanding somatic mutations and their possible role in human aging and age-related diseases.
Keyphrases
- endothelial cells
- dna repair
- gene expression
- single cell
- copy number
- induced pluripotent stem cells
- pluripotent stem cells
- dna damage
- adverse drug
- electronic health record
- cell proliferation
- big data
- high throughput
- squamous cell carcinoma
- mesenchymal stem cells
- stem cells
- patient safety
- mass spectrometry
- single molecule
- microbial community
- bone marrow
- dna methylation
- multidrug resistant
- data analysis
- drug induced
- circulating tumor
- heat stress
- cell cycle arrest
- dna damage response
- pi k akt
- cell death