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SomaMutDB: a database of somatic mutations in normal human tissues.
Sun, Shixiang; Wang, Yujue; Maslov, Alexander Y; Dong, Xiao; Vijg, Jan.
Afiliação
  • Sun S; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
  • Wang Y; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
  • Maslov AY; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
  • Dong X; Laboratory of Applied Genomic Technologies, Voronezh State University of Engineering Technology, Voronezh, Russia.
  • Vijg J; Institute on the Biology of Aging and Metabolism, and Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA.
Nucleic Acids Res ; 50(D1): D1100-D1108, 2022 01 07.
Article em En | MEDLINE | ID: mdl-34634815
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distribuição Tecidual / Genoma Humano / Bases de Dados Genéticas / Mutação Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distribuição Tecidual / Genoma Humano / Bases de Dados Genéticas / Mutação Idioma: En Ano de publicação: 2022 Tipo de documento: Article