Solís Moruno, Manuel, 1993-Batlle Masó, Laura, 1993-Bonet, NúriaAróstegui Gorospe, Juan IgnacioCasals López, Ferran2023-03-212023-03-212023Solís-Moruno M, Batlle-Masó L, Bonet N, Aróstegui JI, Casals F. Somatic genetic variation in healthy tissue and non-cancer diseases. Eur J Hum Genet. 2023 Jan;31(1):48-54. DOI: 10.1038/s41431-022-01213-81018-4813http://hdl.handle.net/10230/56309Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in comparison to younger ones, pointing to a cause/consequence of the senescence process. More recently, researchers have focused on the role of this type of variation in healthy tissue and its dynamics in cell lineages and different organs. In addition, somatic variants have been described to contribute to monogenic diseases, and the number of evidences of their role in complex disorders is also increasing. Thanks to recent advances in next-generation sequencing technologies, this type of genetic variation can be now more easily studied than in the past, although we still face some important limitations. Novel strategies for sampling, sequencing and filtering are being investigated to detect these variants, although validating them with an orthogonal approach will most likely still be needed. In this review, we aim to update our knowledge of somatic variation detection and its relation to healthy tissue and non-cancer diseases.application/pdfengThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.Genètica mèdicaMalalties -- Aspectes genèticsLeucèmiaCàncerinfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41431-022-01213-8info:eu-repo/semantics/openAccess