Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
Author:
Funder
Wellcome Trust
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
Link
http://www.nature.com/articles/s41467-019-11059-2.pdf
Reference61 articles.
1. Biesecker, L. G. & Spinner, N. B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 14, 307–320 (2013).
2. Lupski, J. R. Genome mosaicism–one human, multiple genomes. Science 341, 358–359 (2013).
3. Acuna-Hidalgo, R. et al. Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am. J. Hum. Genet. 97, 67–74 (2015).
4. Campbell, I. M. et al. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am. J. Hum. Genet. 95, 173–182 (2014).
5. Halvorsen, M. et al. Mosaic mutations in early-onset genetic diseases. Genet. Med. 18, 746–749 (2016).
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