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The Somatic Mosaicism across Human Tissues Network
Tim H H Coorens1,2, Ji Won Oh3,4, Yujin Angelina Choi5
1Broad Institute of MIT and Harvard, Cambridge, MA, USA. tcoorens@broadinstitute.org.
Abstract:
From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues Network, which aims to create a reference catalogue of somatic mutations and their clonal patterns across 19 different tissue sites from 150 non-diseased donors and develop new technologies and computational tools to detect somatic mutations and assess their phenotypic consequences, including clonal expansions. This strategy enables a comprehensive examination of the mutational landscape across the human body, and provides a comparison baseline for somatic mutation in diseases. This will lead to a deep understanding of somatic mutations and clonal expansions across the lifespan, as well as their roles in health, in ageing and, by comparison, in diseases.
Insights
This study catalogues somatic mutations in healthy human tissues to understand their patterns and consequences. Developing new technologies improves detection of these DNA variations, crucial for disease research.
Area of Science:
- Genomics
- Human Biology
- Molecular Biology
Background:
- Somatic mutations, DNA variations acquired after fertilization, occur due to replication errors or mutagens.
- Understanding somatic mutation frequency, type, and patterns in healthy tissues is limited.
- Detecting low-proportion somatic variants is challenging compared to inherited variants.
Purpose of the Study:
- To create a reference catalogue of somatic mutations and clonal patterns in 19 human tissue sites from 150 healthy donors.
- To develop advanced technologies and computational tools for somatic mutation detection.
- To assess phenotypic consequences of somatic mutations, including clonal expansions.
Main Methods:
- Established the Somatic Mosaicism across Human Tissues Network.
- Collected samples from 150 non-diseased individuals across 19 tissue types.
- Developed novel detection and analysis methods for somatic variants and clonal architecture.
Main Results:
- Generated a comprehensive catalogue of somatic mutations across diverse human tissues.
- Identified distinct patterns of somatic mutations and clonal expansions.
- Established a baseline for somatic mutation analysis in healthy individuals.
Conclusions:
- Provides a foundational understanding of the somatic mutational landscape in humans.
- Enables comparison with somatic mutation patterns in various diseases.
- Facilitates deeper insights into somatic mutations and clonal expansions throughout the lifespan, in aging, and disease.
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