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"... In a new project, a team of researchers from multiple institutions including Yale will catalog these changes, known as somatic mutations, more than two decades since scientists first logged snapshots of 3 billion DNA base pairs that make up the human DNA. The project will focus specifically on mutations across 19 tissue sites in 150 individuals without disease. ...
The project, called the Somatic Mosaicism across Human Tissues (SMaHT) Network, and which will include more than 300 researchers ..."
From the 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."
The Somatic Mosaicism across Human Tissues Network (open access)
Fig. 1: Somatic mutations, causes and patterns.
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