Journal ArticleDOI
A genomic view of mosaicism and human disease
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TLDR
The clinical and molecular classes of mosaicism, their detection and the biological insights gained from these studies are discussed.Abstract:
Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess genomic variation among, and increasingly within, individuals. It has long been known that cancer is a mosaic genetic disorder, but mosaicism is now apparent in a diverse range of other clinical disorders, as indicated by their tissue distributions and inheritance patterns. Recent technical advances have uncovered the causative mosaic variant underlying many of these conditions and have provided insight into the pervasiveness of mosaicism in normal individuals. Here, we discuss the clinical and molecular classes of mosaicism, their detection and the biological insights gained from these studies.read more
Citations
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Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen,Jayne Y. Hehir-Kwa,Djie Tjwan Thung,Maartje van de Vorst,Bregje W.M. van Bon,Marjolein H. Willemsen,Michael Kwint,Irene M. Janssen,Alexander Hoischen,Annette Schenck,Richard Leach,Robert C. Klein,Rick Tearle,Tan Bo,Rolph Pfundt,Helger G. Yntema,Bert B.A. de Vries,Tjitske Kleefstra,Han G. Brunner,Lisenka E.L.M. Vissers,Joris A. Veltman +20 more
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Timing, rates and spectra of human germline mutation
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References
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Journal ArticleDOI
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TL;DR: Mutations within exon 8 of the Gs alpha gene that result in increased activity of theGs protein and increased cAMP formation are present in various tissues of patients with the McCune-Albright syndrome.
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