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

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

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

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

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

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

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

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

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