Genetic mosaicism more common than thought

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Genetic mosaicism more common than thought
GenesHuman BiologyPersonalized Medicine
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Researchers found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations without causing any apparent disease or abnormality. Even so-called normal cells carry all sorts of genetic mutations, meaning there are more genetic differences between individual cells in our bodies than between different human beings.

The discovery was enabled by a single-cell sequencing technology called Strand-seq, a unique DNA sequencing technique that can reveal subtle details of genomes in single cells that are too difficult to detect with other methods.

The discovery was enabled by a single-cell sequencing technology called Strand-seq, a unique DNA sequencing technique that can reveal subtle details of genomes in single cells that are too difficult to detect with other methods. Sanders is a pioneer in the development of this technology. As part of her doctoral research, she helped develop the Strand-seq protocol, which she later honed with colleagues while working as postdoctoral fellow in Korbel's lab.

"It's just amazing how much heterogeneity there is in our genomes that has gone undetected so far," said Sanders."What this means in terms of how we define normal human ageing and how this can impact the types of diseases we get is really an important question for the field."

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