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Abstract Tuberous sclerosis complex (TSC) is a genetic multisystem disorder regarded as having near-complete penetrance, a view largely derived from clinically ascertained cohorts. As genomic newborn screening is piloted internationally, robust estimates of penetrance and expressivity in unselected populations are urgently needed.
Correction to: Nature Communications https://doi.org/10.1038/s41467-019-11059-2, published online 5 July 2019 The original version of the Supplementary Information associated with this Article included an incorrect Supplementary Data 2 file, in which Supplementary Data 1 was duplicated. The HTML has been updated to include a corrected version of Supplementary Data 2.
Abstract Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically-unaffected parent, and use ultrahigh-depth sequencing to validate candidate mosaic variants.
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