Deep insights uncover disease-causing
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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