% pubman genre = article
@article{item_3167586,
title = {{Evolutionary and functional impact of common polymorphic inversions in the human genome}},
author = {Giner-Delgado, Carla and Villatoro, Sergi and Lerga-Jaso, Jon and Gay{\`a}-Vidal, Magdalena and Oliva, Meritxell and Castellano, David and Pantano, Lorena and Bitarello, B{\'a}rbara D. and Izquierdo, David and Noguera, Isaac and Olalde, I{\~n}igo and Delprat, Alejandra and Blancher, Antoine and Lalueza-Fox, Carles and Esko, T{\~o}nu and O{\textquoteright}Reilly, Paul F. and Andr{\'e}s, Aida M. and Ferretti, Luca and Puig, Marta and C{\'a}ceres, Mario},
language = {eng},
isbn = {2041-1723},
doi = {10.1038/s41467-019-12173-x},
publisher = {Nature Publishing Group},
address = {London},
year = {2019},
abstract = {{Inversions 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{\textendash}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.}},
journal = {{Nature Communications}},
volume = {10},
number = {4222},
}