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.

中文翻译：

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SomaMutDB：正常人体组织中的体细胞突变数据库

据报道，从头突变是 DNA 修复或复制错误的结果，随着年龄的增长在人类和模式生物的正常组织中积累。这种在发育和衰老过程中的积累被认为是衰老和与年龄相关的病理学（包括但不限于癌症）的一个因果关系。由于它们通常非常低的丰度突变很难在正常组织中检测到。只有随着单细胞 DNA 测序、克隆谱系或小组织活检超高深度测序的最新进展，体细胞突变频率和光谱才在几种组织类型中被揭示。这些数据的快速积累促使我们开发了一个名为 SomaMutDB (https://vijglab.einsteinmed.org/SomaMutDB) 的平台来对 242 万个单核苷酸变异 (SNV) 和 0 进行分类。迄今为止，使用这些先进方法在 19 种人体组织或细胞类型中鉴定出 1200 万个小插入和缺失 (INDEL)，作为年龄或环境压力条件的函数。SomaMutDB 采用用户友好的界面来显示和查询体细胞突变及其功能注释。此外，该数据库提供了六种强大的工具来分析与数据相关的突变特征。我们相信，这样的综合资源对于理解体细胞突变及其在人类衰老和与年龄相关的疾病中的可能作用将证明是有价值的。SomaMutDB 采用用户友好的界面来显示和查询体细胞突变及其功能注释。此外，该数据库提供了六种强大的工具来分析与数据相关的突变特征。我们相信，这样的综合资源对于理解体细胞突变及其在人类衰老和与年龄相关的疾病中的可能作用将证明是有价值的。SomaMutDB 采用用户友好的界面来显示和查询体细胞突变及其功能注释。此外，该数据库提供了六种强大的工具来分析与数据相关的突变特征。我们相信，这样的综合资源对于理解体细胞突变及其在人类衰老和与年龄相关的疾病中的可能作用将证明是有价值的。