Giner Delgado, CarlaVillatoro, SergiLerga Jaso, JonGayà Vidal, MagdalenaOliva, MeritxellCastellano Esteve, DavidPantano Rubiño, Lorena, 1982-Bitarello, Bárbara D.Izquierdo, DavidNoguera, IsaacOlalde Marquínez, Íñigo, 1987-Delprat, AlejandraBlancher, AntoineLalueza Fox, Carles, 1965-Esko, TõnuO'Reilly, Paul F.Andrés Morán, Aida, 1976-Ferretti, LucaPuig, MartaCáceres Aguilar, Mario2020-07-102020-07-102019Giner-Delgado C, Villatoro S, Lerga-Jaso J, Gayà-Vidal M, Oliva M, Castellano D, Pantano L, Bitarello BD, Izquierdo D, Noguera I, Olalde I, Delprat A, Blancher A, Lalueza-Fox C, Esko T, O'Reilly PF, Andrés AM, Ferretti L, Puig M, Cáceres M. Nat Commun. 2019; 10(1):4222. DOI: 10.1038/s41467-019-12173-x2041-1723http://hdl.handle.net/10230/45097Inversions are one type of structural variants linked to phenotypic differences and adaptation in multiple organisms. However, there is still very little information about polymorphic inversions in the human genome due to the difficulty of their detection. Here, we develop a new high-throughput genotyping method based on probe hybridization and amplification, and we perform a complete study of 45 common human inversions of 0.1-415 kb. Most inversions promoted by homologous recombination occur recurrently in humans and great apes and they are not tagged by SNPs. Furthermore, there is an enrichment of inversions showing signatures of positive or balancing selection, diverse functional effects, such as gene disruption and gene-expression changes, or association with phenotypic traits. Therefore, our results indicate that the genome is more dynamic than previously thought and that human inversions have important functional and evolutionary consequences, making possible to determine for the first time their contribution to complex traits.application/pdfeng© The Author(s) 2019. Open Access 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/.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41467-019-12173-xGene expression profilingGenome evolutionPopulation geneticsStructural variationinfo:eu-repo/semantics/openAccess