Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease
(2020) Kidney International — Vol. 97, n° 2, p. 261-263 (2020)
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- Abstract
- Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.
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Devuyst, O., & Pei, Y. (2020). Next-generation sequencing for detection of somatic mosaicism in autosomal dominant polycystic kidney disease. Kidney International, 97(2), 261-263. https://doi.org/10.1016/j.kint.2019.11.019 (Original work published 2020)