Evidence map›Paper›PMID 34634815›Full record

ArticleNucleic acids research2022

SomaMutDB: a database of somatic mutations in normal human tissues.

Shixiang Sun, Yujue Wang, Alexander Y Maslov, Xiao Dong, Jan Vijg

Erratum issuedAbstract read
In one paragraph

Article in Nucleic acids research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed.

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  5. The aging genome exhibits organized vulnerability to somatic mutations.bioRxiv : the preprint server for biology · 2026
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Shixiang SunDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.ORCID 0000-0001-5499-2963
Yujue WangDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.
Alexander Y MaslovDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.ORCID 0000-0001-5402-8891
Xiao DongInstitute on the Biology of Aging and Metabolism, and Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN, USA.
Jan VijgDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.

Funding

THE IMPACT OF CELLULAR DEFENSE ON THE ROLE OF Ku80 IN GENOME MAINTENANCE AND LONGP01AG017242 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR SAN ANT · PI VIJG, JAN · 1999 to 2023
$46.1M
The role of hyaluronan in longevity and cancer resistance of longest-lived rodentP01AG047200 · NIA · UNIVERSITY OF ROCHESTER · PI Andrei Seluanov · 2014 to 2026
$36.9M
Validation and characterization of the identified variants associated with human longevity in mouse modelsU19AG056278 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI JAN VIJG · 2017 to 2026
$24.5M
Einstein's Nathan Shock Center of Excellence in Basic Biology of AgingP30AG038072 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI HUFFMAN, DEREK MAJOR · 2010 to 2024
$10.8M
Cross-Validation of Genome Integrity Assays in Primary Human CellsU01ES029519 · NIEHS · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI SPIVACK, SIMON D, VIJG, JAN · 2018 to 2022
$3.6M
Computational evaluation of the causal role of somatic mutations in human agingR00AG056656 · NIA · UNIVERSITY OF MINNESOTA · PI DONG, XIAO · 2021 to 2023
$747k
NIA NIH HHS P01 AG017242NIA NIH HHS P01 AG047200NIA NIH HHS P30 AG038072NIA NIH HHS R00 AG056656NIA NIH HHS U19 AG056278NIEHS NIH HHS U01 ES029519
6 · The paper itself

Abstract

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.

Indexed as

Databases, GeneticAgingDNA RepairGenome, HumanHumansMutationMutation RateNeoplasmsTissue Distribution

Identifiers

PMID34634815
PMCPMC8728264

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.