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

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 a

SUBMITTER: Shea A 

PROVIDER: S-EPMC12807692 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature