Evidence map›Paper›PMID 41296554›Full record

ArticleNucleic acids research2026

SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues.

Anthony Shea, Shixiang Sun, Justin Kennedy, Lei Zhang, Jan Vijg, Xiao Dong

Abstract read
In one paragraph

Article in Nucleic acids research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Anthony SheaMasonic Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN 55455, United States.
Shixiang SunDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, United States.ORCID 0000-0001-5499-2963
Justin KennedyMasonic Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN 55455, United States.
Lei ZhangMasonic Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN 55455, United States.
Jan VijgDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, United States.
Xiao DongMasonic Institute on the Biology of Aging and Metabolism, University of Minnesota, Minneapolis, MN 55455, United States.ORCID 0000-0001-9987-5760

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 Vadim N. Gladyshev · 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 NIR J BARZILAI, Paul D. Robbins · 2017 to 2026
$24.5M
The role of senescent cells in dysregulating immune responses and pathogen controlP01AI172501 · NIAID · UNIVERSITY OF MINNESOTA · PI STEPHEN C JAMESON · 2024 to 2026
$10.9M
Einstein's Nathan Shock Center of Excellence in Basic Biology of AgingP30AG038072 · NIA · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI BARZILAI, NIR J · 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
Integrative, age-related changes in genome and epigenome in human lung in relation to smokingU01HL145560 · NHLBI · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SPIVACK, SIMON D, VIJG, JAN · 2019 to 2022
$2.6M
Genomic Instability-Induced Senescence in Brain Aging and Alzheimer's DiseaseRF1AG068908 · NIA · RBHS -CANCER INSTITUTE OF NEW JERSEY · PI CAMPISI, JUDITH, MONTAGNA, CRISTINA · 2020 to 2020
$1.8M
Somatic mosaicism across mouse tissues during different life stagesR35GM159832 · NIGMS · UNIVERSITY OF MINNESOTA · PI Lei Zhang · 2025 to 2026
$847k
Department of Defense BC180689P1NHLBI NIH HHS U01 HL145560NIAID NIH HHS P01 AI172501NIA NIH HHS P01 AG017242NIA NIH HHS P01 AG047200NIA NIH HHS P30 AG038072NIA NIH HHS RF1 AG068908NIA NIH HHS U19 AG056278NIEHS NIH HHS U01 ES029519NIGMS NIH HHS R35 GM159832NIH HHSNIH HHS P01AG017242NIH HHS P01AG047200NIH HHS P01 AI172501NIH HHS P30AG038072NIH HHS R35 GM159832NIH HHS RF1AG068908NIH HHS U01ES029519NIH HHS U01HL145560NIH HHS U19 AG056278
6 · The paper itself

Abstract

Recent advances in ultra-accurate sequencing technologies have revealed that somatic mutations accumulate throughout the human lifespan and may contribute to both normal aging and disease. These mutations are highly diverse, often non-recurrent, and functionally heterogeneous, making their biological impact difficult to evaluate systematically. Although many studies have profiled somatic mutations in individual tissues or limited cohorts, a centralized and scalable platform that integrates discoveries and supports functional interpretation has been lacking. To address this gap, we present SomaMutDB 2.0 (https://somamutdb.org/SomaMutDB/), a substantially expanded database cataloging 8.9 million mutations (8.57 million SNVs and 0.29 million INDELs) from 10 852 samples of 607 human subjects across 47 studies. Beyond expanded data coverage, SomaMutDB 2.0 introduces a comprehensive functional annotation framework applying 22 predictive models spanning coding, regulatory, expression-based, and ensemble predictors to systematically assess mutational impact. Users can browse pre-annotated variants through an interactive interface or upload their own variants for real-time analysis. Notably, all results are contextualized against mutations from normal, non-diseased tissues in the database, enabling more meaningful interpretation than raw scores alone. Together, these advances establish SomaMutDB 2.0 as the most comprehensive resource currently available for characterizing somatic mosaicism and its functional impact on human health and aging.

Indexed as

Databases, GeneticMutationHumansMolecular Sequence AnnotationSoftwareUser-Computer Interface

Identifiers

PMID41296554
PMCPMC12807692

What Socratic holds

Textmetadata
LicenceCC BY-NC
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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 Socratic graph.