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Mosaicism in health and disease— clones picking up speed
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. (Lars Forsberg)ORCID iD: 0000-0002-1701-755X
Departments of Clinical Genetics and Oncology- Pathology, Skåne Regional and University Laboratories, Lund University, Lund SE-22184, Sweden..
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
2016 (English)In: Nature reviews genetics, ISSN 1471-0056, E-ISSN 1471-0064Article, review/survey (Refereed) Epub ahead of print
Abstract [en]

Post-zygotic variation refers to genetic changes that arise in the soma of an individual and that are not usually inherited by the next generation. Although there is a paucity of research on such variation, emerging studies show that it is common: individuals are complex mosaics of genetically distinct cells, to such an extent that no two somatic cells are likely to have the exact same genome. Although most types of mutation can be involved in post-zygotic variation, structural genetic variants are likely to leave the largest genomic footprint. Somatic variation has diverse physiological roles and pathological consequences, particularly when acquired variants influence the clonal trajectories of the affected cells. Post-zygotic variation is an important confounder in medical genetic testing and a promising avenue for research: future studies could involve analyses of sorted and single cells from multiple tissue types to fully explore its potential.

Place, publisher, year, edition, pages
2016.
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Medical Genetics
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URN: urn:nbn:se:uu:diva-310195DOI: 10.1038/nrg.2016.145OAI: oai:DiVA.org:uu-310195DiVA: diva2:1055534
Available from: 2016-12-12 Created: 2016-12-12 Last updated: 2016-12-13Bibliographically approved

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Forsberg, Lars A.Dumanski, Jan P.
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Science for Life Laboratory, SciLifeLabMedicinsk genetik och genomik
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