Life as we see it in our planet today has been shaped by many different biological processes, particularly natural selection, during billions of years. These processes leave a signature in our genomes in the form of differences between species, or between individuals of the same species. Interrogating these patterns of genome diversity we can infer what are the forces that affect living organisms, how and when they act and how do they affect such various things as biodiversity, human emotions or the differential susceptibility of different persons to certain diseases. All this knowledge empowers us to control our future but, above all, it is very fun to obtain.

Currently, the main research goals of the group focus on to elucidating how evolution, and particularly natural selection, has shaped genome and phenotype diversity in our lineage. To this end, we combine experiments, models and data analysis. Some specific research lines are as follows:


Chromosomal evolution and speciation 

We study how large chromosomal rearrangements affect many aspects of genome structure and evolution, including how they may drive the generation of new species.


Segmental duplications and copy-number variation in primates 

The genomes of humans and other primates show an enrichment in Segmental Duplications (SDs) with high sequence identity, plus they present may Copy-Number Variants (CNVs), large genome fragments of which different individuals present different copies. SDs and CNVs are fundamental for the creation of novel genes and may have been key in the evolution of our lineage. We study not only the frequencies and genome locations of these variants, but also the molecular evolution of their sequence content.


Detecting the genomic signature of natural selection 

We try to detect the signature of adaptive changes out of single-copy protein-coding regions. We focus in how natural selection may have shaped variability patterns in introns and regulatory regions of genes.


Human disease and its evolutionary implications 

We study world-wide patterns of disease susceptibility distribution to ascertain how these may have been influenced by recent human evolution. In addition, we investigate the possible origins of Multiple Sclerosis and its possible relationship with very recent natural selection events in humans.



Complex human traits that are exclusive of our lineage are the basis of our societies and have huge socio-economic impact. We deploy the latest tools of genomics for the dissection of human economic traits.


Lab website: Evolutionary Genomics Lab

Arcadi Navarro Cuartiellas

Navarro Cuartiellas, Arcadi
ICREA Research Professor
Evolutionary Genomics Lab

Fabio Barteri

Barteri, Fabio
Scientific Support Personnel
Evolutionary Genomics

Gerard Muntané Medina

Muntané Medina, Gerard
Visiting- Associate professor
Evolutionary Genomics Lab

De Maturana EL, Ye Y, Calle ML, Rothman N, Urrea V, Kogevinas M, Petrus S, Chanock SJ, Tardón A, García-Closas M, González-Neira A, Vellalta G, Carrato A, Navarro A, Lorente-Galdós B, Silverman DT, Real FX, Wu X, Malats N. 2013. Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk. PLoS ONE, 8(12). DOI:10.1371/journal.pone.0083745

Alcina A, Fedetz M, Fernández O, Saiz A, Izquierdo G, Lucas M, Leyva L, García-León JA, Abad-Grau Mdel M, Alloza I, Antigüedad A, Garcia-Barcina MJ, Vandenbroeck K, Varadé J, de la Hera B, Arroyo R, Comabella M, Montalban X, Petit-Marty N, Navarro A, Otaegui D, Olascoaga J, Blanco Y, Urcelay E, Matesanz F. 2013. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis. Journal of Medical Genetics, 50(1):25-33. DOI:10.1136/jmedgenet-2012-101085

Petit N, Piñeyro D, López-Panadès E, Casacuberta E, Navarro A. 2012. HeT-A_pi1, a piRNA target sequence in the Drosophila telomeric retrotransposon HeT-A, is extremely conserved across copies and species. PLoS ONE, 7(5):1-11. DOI:10.1371/journal.pone.0037405

Lorente-Galdos B, Medina I, Morcillo-Suarez C, Heredia T, Carreño-Torres A, Sangrós R, Alegre J, Pita G, Vellalta G, Malats N, Pisano DG, Dopazo J, Navarro A. 2012. Select Your SNPs (SYSNPs): a web tool for automatic and massive selection of SNPs. International Journal of Data Mining and Bioinformatics, 6(3):324. DOI:10.1504/IJDMB.2012.049249

Garcia-Mas J, Benjak A, Sanseverino W, Bourgeois M, Mir G, González VM, Hénaff E, Câmara F, Cozzuto L, Lowy E, Alioto T, Capella-Gutiérrez S, Blanca J, Cañizares J, Ziarsolo P, Gonzalez-Ibeas D, Rodríguez-Moreno L, Droege M, Du L, Alvarez-Tejado M, Lorente-Galdos B, Melé M, Yang L, Weng Y, Navarro A, Marques-Bonet T, Aranda MA, Nuez F, Picó B, Gabaldón T, Roma G, Guigó R, Casacuberta JM, Arús P, Puigdomènech P. 2012. The genome of melon (Cucumis melo L.). Proceedings of the National Academy of Sciences of the United States of America, 109(29):11872-11877. DOI:10.1073/pnas.1205415109

Dickhaus T, Straßburger K, Schunk D, Morcillo-Suarez C, Illig T, Navarro A. 2012. How to analyze many contingency tables simultaneously in genetic association studies. Statistical Applications in Genetics and Molecular Biology, 11(4). DOI:10.1515/1544-6115.1776

Cantó E, Reverter F, Morcillo-Suárez C, Matesanz F, Fernández O, Izquierdo G, Vandenbroeck K, Rodríguez-Antigüedad A, Urcelay E, Arroyo R, Otaegui D, Olascoaga J, Saiz A, Navarro A, Sanchez A, Domínguez C, Caminero A, Horga A, Tintoré M, Montalban X, Comabella M. 2012. Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis. Multiple Sclerosis Journal, 18(7):983-990. DOI:10.1177/1352458511433063

Ventura M, Catacchio CR, Alkan C, Marques-Bonet T, Sajjadian S, Graves TA, Hormozdiari F, Navarro A, Malig M, Baker C, Lee C, Turner EH, Chen L, Kidd JM, Archidiacono N, Shendure J, Wilson RK, Eichler EE. 2011. Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee. Genome Research, 21(10):1640-1649. DOI:10.1101/gr.124461.111

Vallès-Codina O, Möbius R, Rüdiger S, Schimansky-Geier L. 2011. Traveling echo waves in an array of excitable elements with time-delayed coupling. Physical Review E - Statistical, Nonlinear, and Soft Matter Physics, 83(3):1-9. DOI:10.1103/PhysRevE.83.036209

Navarro A, Morcillo-Suárez C, Montalban X, Comabella M. 2011. Re: CASP8 in MS. Journal of Neuroimmunology, 230(1-2):193. DOI:10.1016/j.jneuroim.2010.09.004

Muñiz-Fernandez F, Carreño-Torres A, Morcillo-Suarez C, Navarro A. 2011. Genome-wide association studies pipeline (GWASpi): A desktop application for genome-wide SNP analysis and management. Bioinformatics, 27(13):1871-1872. DOI:10.1093/bioinformatics/btr301

Malhotra S, Morcillo-Suárez C, Brassat D, Goertsches R, Lechner-Scott J, Urcelay E, Fernández O, Drulovic J, García-Merino A, Martinelli Boneschi F, Chan A, Vandenbroeck K, Navarro A, Bustamante MF, Río J, Akkad DA, Giacalone G, Sánchez AJ, Leyva L, Alvarez-Lafuente R, Zettl UK, Oksenberg J, Montalban X, Comabella M. 2011. IL28B polymorphisms are not associated with the response to interferon-beta in multiple sclerosis. Journal of Neuroimmunology, 239(1-2):101-104. DOI:10.1016/j.jneuroim.2011.08.004

Marigorta UM, Lao O, Casals F, Calafell F, Morcillo-Suárez C, Faria R, Bosch E, Serra F, Bertranpetit J, Dopazo H, Navarro A. 2011. Recent human evolution has shaped geographical differences in susceptibility to disease. BMC Genomics, 12. DOI:10.1186/1471-2164-12-5

Locke DP, Hillier LW, Warren WC, Worley KC, Nazareth LV, Muzny DM, Yang SP, Wang Z, Chinwalla AT, Minx P, Mitreva M, Cook L, Delehaunty KD, Fronick C, Schmidt H, Fulton LA, Fulton RS, Nelson JO, Magrini V, Pohl C, Graves TA, Markovic C, Cree A, Dinh HH, Hume J, Kovar CL, Fowler GR, Lunter G, Meader S, Heger A, Ponting CP, Marques-Bonet T, Alkan C, Chen L, Cheng Z, Kidd JM, Eichler EE, White S, Searle S, Vilella AJ, Chen Y, Flicek P, Ma J, Raney B, Suh B, Burhans R, Herrero J, Haussler D, Faria R, Fernando O, Darré F, Farré D, Gazave E, Oliva M, Navarro A, Roberto R, Capozzi O, Archidiacono N, Della Valle G, Purgato S, Rocchi M, Konkel MK, Walker JA, Ullmer B, Batzer MA, Smit AF, Hubley R, Casola C, Schrider DR, Hahn MW, Quesada V, Puente XS, Ordoñez GR, López-Otín C, Vinar T, Brejova B, Ratan A, Harris RS, Miller W, Kosiol C, Lawson HA, Taliwal V, Martins AL, Siepel A, Roychoudhury A, Ma X, Degenhardt J, Bustamante CD, Gutenkunst RN, Mailund T, Dutheil JY, Hobolth A, Schierup MH, Ryder OA, Yoshinaga Y, de Jong PJ, Weinstock GM, Rogers J, Mardis ER, Gibbs RA, Wilson RK. 2011. Comparative and demographic analysis of orang-utan genomes. Nature, 469(7331):529-533. DOI:10.1038/nature09687

Laayouni H, Montanucci L, Sikora M, Melé M, Dall'Olio GM, Lorente-Galdos B, McGee KM, Graffelman J, Awadalla P, Bosch E, Comas D, Navarro A, Calafell F, Casals F, Bertranpetit J. 2011. Similarity in recombination rate estimates highly correlates with genetic differentiation in humans. PLoS ONE, 6(3). DOI:10.1371/journal.pone.0017913

Gazave E, Darré F, Morcillo-Suarez C, Petit-Marty N, Carreño A, Marigorta UM, Ryder OA, Blancher A, Rocchi M, Bosch E, Baker C, Marquès-Bonet T, Eichler EE, Navarro A. 2011. Copy number variation analysis in the great apes reveals species-specific patterns of structural variation. Genome Research, 21(10):1626-1639. DOI:10.1101/gr.117242.110

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