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Somatic genetic variation in healthy tissue and non-cancer diseases

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dc.contributor.author Solís Moruno, Manuel, 1993-
dc.contributor.author Batlle Masó, Laura, 1993-
dc.contributor.author Bonet, Núria
dc.contributor.author Aróstegui Gorospe, Juan Ignacio
dc.contributor.author Casals López, Ferran
dc.date.accessioned 2023-03-21T12:29:33Z
dc.date.available 2023-03-21T12:29:33Z
dc.date.issued 2023
dc.identifier.citation Solís-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/s41431-022-01213-8
dc.identifier.issn 1018-4813
dc.identifier.uri http://hdl.handle.net/10230/56309
dc.description.abstract Somatic 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.
dc.description.sponsorship This study was funded by grants PID2021-125106OB-C32 (FC), RTI2018-096824-B-C22 (FC), RTI2018-096824-B-C21 (JIA) and PID2021-125106OB-C31 (JIA) funded by MCIN/ AEI /10.13039/501100011033/ and FEDER Una manera de hacer Europa; Direcció General de Recerca- Generalitat de Catalunya (2017SGR-702) (FC); and CERCA Programme/Generalitat de Catalunya (JIA). MS-M was supported by the Ministerio de Economía y Competitividad, Spain (Maria de Maetzu grant MDM-2014-0370-16-3).
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartof European Journal of Human Genetics. 2023 Jan;31(1):48-54
dc.rights This 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/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Genètica mèdica
dc.subject.other Malalties -- Aspectes genètics
dc.subject.other Leucèmia
dc.subject.other Càncer
dc.title Somatic genetic variation in healthy tissue and non-cancer diseases
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41431-022-01213-8
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PE/PID2021-125106OB-C32
dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/RTI2018-096824-B-C22
dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/RTI2018-096824-B-C21
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PE/PID2021-125106OB-C31
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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