Somatic genetic variation in healthy tissue and non-cancer diseases
Solís-Moruno, Manuel (Institut d'Investigacions Biomèdiques August Pi i Sunyer)
Batlle-Masó, Laura (Hospital Universitari Vall d'Hebron)
Bonet, Núria (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut)
Aróstegui, Juan Ignacio (Universitat de Barcelona)
Casals, Ferran (Universitat de Barcelona. Institut de Biomedicina)
Universitat Autònoma de Barcelona

Date:	2022
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.
Grants:	Ministerio de Economía y Competitividad MDM-2014-0370-16-3 Agencia Estatal de Investigación RTI2018-096824-B-C21 Agencia Estatal de Investigación RTI2018-096824-B-C22 Ministerio de Economía y Competitividad PID2021-125106OB-C31 Ministerio de Economía y Competitividad PID2021-125106OB-C32 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR-702
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Medical genomics ; Medical genetics
Published in:	European Journal of Human Genetics, Vol. 31 (october 2022) , p. 48-54, ISSN 1476-5438

DOI: 10.1038/s41431-022-01213-8
PMID: 36289407

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