NEW YORK (GenomeWeb) – Using a screen they developed, researchers from New York University and elsewhere have uncovered mosaic mutations associated with two early-onset genetic diseases.

Mosaic mutations arise spontaneously at low rates during development and may then be passed on to a person's children. As mosaic mutations haven't undergone purifying selection — much like de novo mutations — the researchers led by NYU's Orrin Devinsky suspected that they might be enriched for pathogenicity.

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