Deep insights uncover disease-causing mosaic mutations

Researchers at the University of California San Diego School of Medicine and the Rady Kids Institute for Genomic Medicines

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a first step in finding ways to expand treatments. for many diseases.

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Mosaic mutations are only present in a very small percentage of human cells

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and for this reason are difficult to identify using general DNA sequencing and computational strategies.

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To overcome this, the researchers turned to deep knowledge to expand a device that can investigate

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and look at vast amounts of genetic statistics to find the small percentage of cells affected by mutations

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The performance of the device, known as "DeepMosaic", was highlighted in studies published yesterday in the journal Nature Biotechnology.

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DeepMosaic was trained on 180,000 simulated or experimentally evaluated MVs and compared against 619,740 simulated mosaic variations (MVs)

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