Journal
NATURE REVIEWS GENETICS
Volume 14, Issue 5, Pages 307-320Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3424
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Funding
- Intramural Research Program of the US National Human Genome Research Institute of the National Institutes of Health
- US National Institute of Diabetes and Digestive and Kidney Diseases
- US National Human Genome Research Institute
- Ring 14 Association
- Fred and Suzanne Biesecker Liver Center in the Research Institute at the Children's Hospital of Philadelphia
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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.
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