Understanding genetic mosaicism in human cells

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Understanding genetic mosaicism in human cells
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In a study led by Jan Korbel at the European Molecular Biology Laboratory (EMBL) and Ashley Sanders at the Berlin Institute for Medical Systems Biology of the Max Delbrück Center (MDC-BIMSB), researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations – copy number variations and chromosomal...

May 28 2024European Molecular Biology Laboratory In a study led by Jan Korbel at the European Molecular Biology Laboratory and Ashley Sanders at the Berlin Institute for Medical Systems Biology of the Max Delbrück Center , researchers have found that approximately one in 40 human bone marrow cells carry massive chromosomal alterations – copy number variations and chromosomal rearrangements, for example – without causing any apparent disease or abnormality.

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.

"We are just recognising that contrary to what we learned in textbooks, every cell in our body doesn't have the exact same DNA," she said. Related Stories"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 aging and how this can impact the types of diseases we get is really an important question for the field."

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