Genòmica evolutiva
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.
Genoeconomics
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
Genius P, Fernández-Bonet A, Rodríguez-Fernández B, Gallay C, Gonzalez-Escalante A, Sánchez-Benavides G, López-Martos D, Esteller M, Navarro A, Gispert JD, Brugulat-Serrat A, Vilor-Tejedor N, et al. 2026. Sex-specific early cognitive changes are linked to global and pathway-specific genetic risk for Alzheimer's disease in at-risk individuals. Biology of Sex Differences. DOI: 10.1186/s13293-025-00800-w.
Vilor‑Tejedor N, Rodrigo A, Genius P, Rodríguez‑Fernández B, Anastasi F, Pelkmans W, Navarro A, Adams H H, Wisse L, Gispert J D, Evans T E; ADNI. 2025. Genetic drivers of hippocampal atrophy highlight the role of APOE functional variants and AD polygenicity in Mild Cognitive Impairment. NeuroImage: Clinical, 48: 103889. DOI: 10.1016/j.nicl.2025.103889.
Santos-Pujol E, Noguera-Castells A, Casado-Pelaez M, García-Prieto CA, (...), Brigos-Barril E, (...), Laayouni H, Navarro A, Esteller M. 2025. The multiomics blueprint of the individual with the most extreme lifespan. Cell Reports Medicine, 102368. DOI: 10.1016/j.xcrm.2025.102368.
Rodríguez-Fernández B, González-Escalante A, Genius P, Evans TE, Ortiz-Romero P, Minguillón C, Kollmorgen G, Ashton NJ, Zetterberg H, Blennow K, Gispert JD, Navarro A, Suárez-Calvet M, Sala-Vila A, Crous-Bou M, Vilor-Tejedor N; ALFA Study Collaborators. 2025. Longitudinal association of shorter leukocyte telomere length with CSF biomarker dynamics across early Alzheimer's disease stages in at-risk individuals. EBioMedicine, 119:105886. DOI: 10.1016/j.ebiom.2025.105886.
Genius P, Rodríguez-Fernández B, Minguillon C, Brugulat-Serrat A, Huguet J, Esteller M, Sudre CH, Cortés Canteli M, Tristão-Pereira C, García Lunar I, Navarro A, Gispert JD, Vilor-Tejedor N. 2026. Polygenic risk for white matter hyperintensities is associated with early cerebrovascular events partly through hemodynamic measures in cognitively unimpaired middle-aged and older adults with low cardiovascular risk. Frontiers in Neurology, 16:1667424. DOI: 10.3389/fneur.2025.1667424.
Carmona R, Roldán G, Fernández-Rueda JL, Navarro A, Peña-Chilet M, CSVS Crowdsourcing Group, Dopazo J, López-López D. 2025. The Spanish Polygenic Score reference distribution: a resource for personalized medicine. European Journal of Human Genetics. Advance online publication. doi:10.1038/s41431-025-01850-9
Anastasi F, Genius P, Rodriguez‑Fernandez B, Yang C, Gorijala P, Timsina J, Hernández‑Villamizar F, Lorenzini L, Del Campo M, Sánchez‑Benavides G, Minguillon C, Navarro A, Cruchaga C, Suárez‑Calvet M, Vilor‑Tejedor N. 2025. Proteomic polygenic risk scores of age‑related plasma protein levels reveal a role for Metalloproteinase inhibitor 2 (TIMP2) in cognitive performance. Neurobiology of Aging, 157: 68‑78. DOI: 10.1016/j.neurobiolaging.2025.10.003.
Rodríguez-Fernández B, Sánchez-Benavides G, Genius P, Minguillon C, Fauria K, De Vivo I, Navarro A, Molinuevo JL, Gispert JD, Sala-Vila A, Vilor-Tejedor N, Crous-Bou M; ALFA study. 2024. Association between telomere length and cognitive function among cognitively unimpaired individuals at risk of Alzheimer’s disease. Neurobiology of Aging, 141(June):140-150. DOI:10.1016/j.neurobiolaging.2024.05.015
He R, Al-Tamimi J, Sánchez-Benavides G, Montaña-Valverde G, Domingo Gispert J, Grau-Rivera O, Suárez-Calvet M, Minguillon C, Fauria K, Navarro A, Hinzen W. 2024. Atypical cortical hierarchy in Aβ-positive older adults and its reflection in spontaneous speech. Brain Research, 1830:148806. DOI:10.1016/j.brainres.2024.148806
Fromont LA, Moldes M, Baudis M, Brookes AJ, Navarro A, Rambla J. 2024 Twelve quick tips for deploying a Beacon. PLOS Computational Biology, 20(3):e1011817. DOI:10.1371/journal.pcbi.1011817
Fiore L, Arderiu J, Martí-Sarrias A, Turpín I, Pareja RI, Navarro A, Holubiec M, Bianchelli J, Falzone T, Spelzini G, Scicolone G, Acosta S. 2024. Early Unguided Human Brain Organoid Neurovascular Niche Modeling into the Permissive Chick Embryo Chorioallantoic Membrane. Journal of Visualized Experiments, 204:1-12. DOI:10.3791/65710
Vilor-Tejedor N, Genius P, Rodríguez-Fernández B, Minguillón C, Sadeghi I, González-Escalante A, Crous-Bou M, Suárez-Calvet M, Grau-Rivera O, Brugulat-Serrat A, Sánchez-Benavides G, Esteller M, Fauria K, Molinuevo JL, Navarro A, Gispert JD; Alzheimer's Disease Neuroimaging Initiative; ALFA study. 2023. Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer’s continuum. Alzheimer’s & Dementia. DOI:10.1002/alz.13537
Muntané G, Vázquez-Bourgon J, Sada E, Martorell L, Papiol S, Bosch E, Navarro A, Crespo-Facorro B, Vilella E. 2023. Polygenic risk scores enhance prediction of body mass index increase in individuals with a first episode of psychosis. European Psychiatry, 66(1):e28. DOI:10.1192/j.eurpsy.2023.9
Kuderna LFK, Gao H, Janiak MC, Kuhlwilm M, Orkin JD, Bataillon T, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, Schraiber JG, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, Valsecchi J, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin AD, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Rogers J, Farh KK, Marques Bonet T. 2023. A global catalog of whole-genome diversity from 233 primate species. Science. 2023;380(6648):906-913. DOI:10.1126/science.abn7829
García-González L, Martí-Sarrias A, Puertas MC, Bayón-Gil Á, Resa-Infante P, Martinez-Picado J, Navarro A, Acosta S. 2023. Understanding the neurological implications of acute and long COVID using brain organoids. Disease Models & Mechanisms, 16(7):1-21. DOI:10.1242/dmm.050049
Christmas MJ, Kaplow IM, Genereux DP, Dong MX, Hughes GM, Li X, Sullivan PF, Hindle AG, Andrews G, Armstrong JC, Bianchi M, Breit AM, Diekhans M, Fanter C, Foley NM, Goodman DB, Goodman L, Keough KC, Kirilenko B, Kowalczyk A, Lawless C, Lind AL, Meadows JRS, Moreira LR, Redlich RW, Ryan L, Swofford R, Valenzuela A, Wagner F, Wallerman O, Brown AR, Damas J, Fan K, Gatesy J, Grimshaw J, Johnson J, Kozyrev SV, Lawler AJ, Marinescu VD, Morrill KM, Osmanski A, Paulat NS, Phan BN, Reilly SK, Schäffer DE, Steiner C, Supple MA, Wilder AP, Wirthlin ME, Xue JR; Zoonomia Consortium§; Birren BW, Gazal S, Hubley RM, Koepfli KP, Marques-Bonet T, Meyer WK, Nweeia M, Sabeti PC, Shapiro B, Smit AFA, Springer MS, Teeling EC, Weng Z, Hiller M, Levesque DL, Lewin HA, Murphy WJ, Navarro A, Paten B, Pollard KS, Ray DA, Ruf I, Ryder OA, Pfenning AR, Lindblad-Toh K, Karlsson EK, Andrews G, Armstrong JC, Bianchi M, Birren BW, Bredemeyer KR, Breit AM, Christmas MJ, Clawson H, Damas J, Di Palma F, Diekhans M, Dong MX, Eizirik E, Fan K, Fanter C, Foley NM, Forsberg-Nilsson K, Garcia CJ, Gatesy J, Gazal S, Genereux DP, Goodman L, Grimshaw J, Halsey MK, Harris AJ, Hickey G, Hiller M, Hindle AG, Hubley RM, Hughes GM, Johnson J, Juan D, Kaplow IM, Karlsson EK, Keough KC, Kirilenko B, Koepfli KP, Korstian JM, Kowalczyk A, Kozyrev SV, Lawler AJ, Lawless C, Lehmann T, Levesque DL, Lewin HA, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu VD, Marques-Bonet T, Mason VC, Meadows JRS, Meyer WK, Moore JE, Moreira LR, Moreno-Santillan DD, Morrill KM, Muntané G, Murphy WJ, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat NS, Pfenning AR, Phan BN, Pollard KS, Pratt HE, Ray DA, Reilly SK, Rosen JR, Ruf I, Ryan L, Ryder OA, Sabeti PC, Schäffer DE, Serres A, Shapiro B, Smit AFA, Springer M, Srinivasan C, Steiner C, Storer JM, Sullivan KAM, Sullivan PF, Sundström E, Supple MA, Swofford R, Talbot JE, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder AP, Wirthlin ME, Xue JR, Zhang X. 2023. Evolutionary constraint and innovation across hundreds of placental mammals. Science, 380(6643). DOI:10.1126/science.abn3943
Barteri F, Valenzuela A, Farré X, de Juan D, Muntané G, Esteve-Altava B, Navarro A. 2023. CAAStools: a toolbox to identify and test Convergent Amino Acid Substitutions. Bioinformatics, 39(10):2022.12.14.520422. DOI:10.1093/bioinformatics/btad623
Sadeghi I, Gispert JD, Palumbo E, Muñoz-Aguirre M, Wucher V, D'Argenio V, Santpere G, Navarro A, Guigo R, Vilor-Tejedor N. 2022. Brain transcriptomic profiling reveals common alterations across neurodegenerative and psychiatric disorders. Computational and Structural Biotechnology Journal, 20:4549-4561. DOI:10.1016/j.csbj.2022.08.037
Rodríguez-Fernández B, Gispert JD, Guigo R, Navarro A, Vilor-Tejedor N, Crous-Bou M. 2022. Genetically predicted telomere length and its relationship with neurodegenerative diseases and life expectancy. Computational and Structural Biotechnology Journal, 20:4251-4256. DOI: 10.1016/j.csbj.2022.08.006
Rodríguez-Fernández B, Vilor-Tejedor N, Arenaza-Urquijo EM, Sánchez-Benavides G, Suárez-Calvet M, Operto G, Minguillón C, Fauria K, Kollmorgen G, Suridjan I, de Moura MC, Piñeyro D, Esteller M, Blennow K, Zetterberg H, De Vivo I, Molinuevo JL, Navarro A, Gispert JD, Sala-Vila A, Crous-Bou M; ALFA study. 2022. Genetically predicted telomere length and Alzheimer’s disease endophenotypes: a Mendelian randomization study. Alzheimer’s Research & Therapy, 14(1):167. DOI:10.1186/s13195-022-01101-9
Rambla J, Baudis M, Ariosa R, Beck T, Fromont LA, Navarro A, Paloots R, Rueda M, Saunders G, Singh B, Spalding JD, Törnroos J, Vasallo C, Veal CD, Brookes AJ. 2022. Beacon v2 and Beacon Networks: a “lingua franca” for federated data discovery in biomedical genomics, and beyond. Human Mutation. DOI:10.1002/humu.24369
Palmer WH, Telford M, Navarro A, Santpere G, Norman PJ. 2022. Human herpesvirus diversity is altered in HLA class I binding peptides. Proceedings of the National Academy of Sciences, 119(18):1-12. DOI:10.1073/pnas.2123248119
Joshi RS, Rigau M, García-Prieto CA, Castro de Moura M, Piñeyro D, Moran S, Davalos V, Carrión P, Ferrando-Bernal M, Olalde I, Lalueza-Fox C, Navarro A, Fernández-Tena C, Aspandi D, Sukno FM, Binefa X, Valencia A, Esteller M. 2022. Look-alike humans identified by facial recognition algorithms show genetic similarities. Cell Reports, 40(8):111257. DOI:10.1016/j.celrep.2022.111257
Akinci M, Peña-Gómez C, Operto G, Fuentes-Julian S, Deulofeu C, Sánchez-Benavides G, Milà-Alomà M, Grau-Rivera O, Gramunt N, Navarro A, Minguillón C, Fauria K, Suridjan I, Kollmorgen G, Bayfield A, Blennow K, Zetterberg H, Molinuevo JL, Suárez-Calvet M, Gispert JD, Arenaza-Urquijo EM. 2022. Pre-pandemic Alzheimer Disease Biomarkers and Anxious-Depressive Symptoms During the COVID-19 Confinement in Cognitively Unimpaired Adults. Neurology, 99(14):1486-1498. DOI:10.1212/WNL.0000000000200948
Thorogood A, Rehm HL, Goodhand P, Page AJH, Joly Y, Baudis M, Rambla J, Navarro A, Nyronen TH, Linden M, Dove ES, Fiume M, Brudno M, Cline MS, Bimey E. 2021. International federation of genomic medicine databases using GA4GH standards. Cell Genomics, 1(2):100032. DOI:10.1016/j.xgen.2021.100032
Rehm HL, Page AJH, Smith L, Adams JB, Alterovitz G, Babb LJ, Barkley MP, Baudis M, Beauvais MJS, Beck T, Beckmann JS, Beltran S, Bernick D, Bernier A, Bonfield JK, Boughtwood TF, Bourque G, Bowers SR, Brookes AJ, Brudno M, Brush MH, Bujold D, Burdett T, Buske OJ, Cabili MN, Cameron DL, Carroll RJ, Casas-Silva E, Chakravarty D, Chaudhari BP, Chen SH, Cherry JM, Chung J, Cline M, Clissold HL, Cook-Deegan RM, Courtot M, Cunningham F, Cupak M, Davies RM, Denisko D, Doerr MJ, Dolman LI, Dove ES, Dursi LJ, Dyke SOM, Eddy JA, Eilbeck K, Ellrott KP, Fairley S, Fakhro KA, Firth HV, Fitzsimons MS, Fiume M, Flicek P, Fore IM, Freeberg MA, Freimuth RR, Fromont LA, Fuerth J, Gaff CL, Gan W, Ghanaim EM, Glazer D, Green RC, Griffith M, Griffith OL, Grossman RL, Groza T, Auvil JMG, Guigó R, Gupta D, Haendel MA, Hamosh A, Hansen DP, Hart RK, Hartley DM, Haussler D, Hendricks-Sturrup RM, Ho CWL, Hobb AE, Hoffman MM, Hofmann OM, Holub P, Hsu JS, Hubaux JP, Hunt SE, Husami A, Jacobsen JO, Jamuar SS, Janes EL, Jeanson F, Jené A, Johns AL, Joly Y, Jones SJM, Kanitz A, Kato K, Keane TM, Kekesi-Lafrance K, Kelleher J, Kerry G, Khor SS, Knoppers BM, Konopko MA, Kosaki K, Kuba M, Lawson J, Leinonen R, Li S, Lin MF, Linden M, Liu X, Udara Liyanage I, Lopez J, Lucassen AM, Lukowski M, Mann AL, Marshall J, Mattioni M, Metke-Jimenez A, Middleton A, Milne RJ, Molnár-Gábor F, Mulder N, Munoz-Torres MC, Nag R, Nakagawa H, Nasir J, Navarro A, Nelson TH, Niewielska A, Nisselle A, Niu J, Nyrönen TH, O'Connor BD, Oesterle S, Ogishima S, Wang VO, Paglione LAD, Palumbo E, Parkinson HE, Philippakis AA, Pizarro AD, Prlic A, Rambla J, Rendon A, Rider RA, Robinson PN, Rodarmer KW, Rodriguez LL, Rubin AF, Rueda M, Rushton GA, Ryan RS, Saunders GI, Schuilenburg H, Schwede T, Scollen S, Senf A, Sheffield NC, Skantharajah N, Smith AV, Sofia HJ, Spalding D, Spurdle AB, Stark Z, Stein LD, Suematsu M, Tan P, Tedds JA, Thomson AA, Thorogood A, Tickle TL, Tokunaga K, Törnroos J, Torrents D, Upchurch S, Valencia A, Guimera RV, Vamathevan J, Varma S, Vears DF, Viner C, Voisin C, Wagner AH, Wallace SE, Walsh BP, Williams MS, Winkler EC, Wold BJ, Wood GM, Woolley JP, Yamasaki C, Yates AD, Yung CK, Zass LJ, Zaytseva K, Zhang J, Goodhand P, North K, Birney E.. 2021. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genomics, 1(2):100029. DOI:10.1016/j.xgen.2021.100029
Rafajlović M, Rambla J, Feder JL, Navarro A, Faria R. 2021. Inversions and genomic differentiation after secondary contact: when drift contributes to maintenance, not loss, of differentiation. Evolution, 75(6):1288-1303. DOI: 10.1111/evo.14223
Muntané G, Farré X, Bosch E, Martorell L, Navarro A, Vilella E. 2021. The shared genetic architecture of schizophrenia, bipolar disorder and lifespan. Human Genetics, 140(3):441–455. DOI: 10.1007/s00439-020-02213-8
Muntané G, Chillida M, Aranda S, Navarro A, Vilella E. 2021. Coexpression of the discoidin domain receptor 1 gene with oligodendrocyte‐related and schizophrenia risk genes in the developing and adult human brain. Brain and Behavior, 11(8). DOI:10.1002/brb3.2309
Melin AD, Orkin JD, Janiak MC, Valenzuela A, Kuderna L, Marrone F, Ramangason H, Horvath JE, Roos C, Kitchener AC, Khor CC, Lim WK, Lee JGH, Tan P, Umapathy G, Raveendran M, Alan Harris R, Gut I, Gut M, Lizano E, Nadler T, Zinner D, Le MD, Manu S, Rabarivola CJ, Zaramody A, Andriaholinirina N, Johnson SE, Jarvis ED, Fedrigo O, Wu D, Zhang G, Farh KK, Rogers J, Marques-Bonet T, Navarro A, Juan D, Arora PS, Higham JP. 2021. Variation in predicted COVID‐19 risk among lemurs and lorises. American Journal of Primatology, 83(6):1-12. DOI: 10.1002/ajp.23255
García-Pérez R, Esteller-Cucala P, Mas G, Lobón I, Di Carlo V, Riera M, Kuhlwilm M, Navarro A, Blancher A, Di Croce L, Gómez-Skarmeta JL, Juan D, Marquès-Bonet T. 2021. Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures. Nature Communications, 12(1):1-17. DOI:10.1038/s41467-021-23397-1
Fontsere C, Frandsen P, Hernandez-Rodriguez J, Niemann J, Scharff-Olsen CH, Vallet D, Le Gouar P, Ménard N, Navarro A, Siegismund HR, Hvilsom C, Gilbert MTP, Kuhlwilm M, Hughes D, Marques-Bonet T. 2021. The genetic impact of an Ebola outbreak on a wild gorilla population. BMC Genomics, 22(1):735. DOI:10.1186/s12864-021-08025-y
Farré X, Molina R, Barteri F, Timmers PRHJ, Joshi PK, Oliva B, Acosta S, Esteve-Altava B, Navarro A, Muntané G. 2021. Comparative Analysis of Mammal Genomes Unveils Key Genomic Variability for Human Life Span. Molecular Biology and Evolution, 38(11):4948-4961. DOI:10.1093/molbev/msab219
Ciampa I, Operto G, Falcon C, Minguillon C, Castro de Moura M, Piñeyro D, Esteller M, Molinuevo JL, Guigó R, Navarro A, Gispert JD, Vilor-Tejedor N, For The Alfa Study. 2021. Genetic Predisposition to Alzheimer’s Disease Is Associated with Enlargement of Perivascular Spaces in Centrum Semiovale Region. Genes. 12(6):825. DOI:10.3390/genes12060825
Ahmadi A, Gispert JD, Navarro A, Vilor-Tejedor N, Sadeghi I. 2021. Single-cell Transcriptional Changes in Neurodegenerative Diseases. Neuroscience, 479:192-205. DOI:10.1016/j.neuroscience.2021.10.025
Telford M, Hughes DA, Juan D, Stoneking M, Navarro A, Santpere G. 2020. Expanding the geographic characterisation of Epstein–Barr virus variation through gene-based approaches. Microorganisms, 8(11):1-27. DOI:10.3390/microorganisms8111686
Santpere G, Telford M, Andrés-Benito P, Navarro A, Ferrer I. 2020. The Presence of Human Herpesvirus 6 in the Brain in Health and Disease. Biomolecules, 10(11):1520. DOI: 10.3390/biom10111520
Peroni S, Sorosina M, Malhotra S, Clarelli F, Osiceanu AM, Ferrè L, Roostaei T, Rio J, Midaglia L, Villar LM, Álvarez-Cermeño JC, Guaschino C, Radaelli M, Citterio L, Lechner-Scott J, Spataro N, Navarro A, Martinelli V, Montalban X, Weiner HL, de Jager P, Comi G, Esposito F, Comabella M, Martinelli-Boneschi F. 2020. A pharmacogenetic study implicates NINJ2 in the response to Interferon-β in multiple sclerosis. Multiple Sclerosis Journal, 26(9):1074-1082. DOI:10.1177/1352458519851428
Heredia-Genestar JM, Marquès-Bonet T, Juan D, Navarro A. 2020. Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations. Nature Communications, 11(1):2512. DOI: 10.1038/s41467-020-16296-4.
Gil-Varea E, Fedetz M, Eixarch H, Spataro N, Villar LM, Urcelay E, Saiz A, Fernández Ó, Leyva L, Ramió-Torrentà L, Vandenbroeck K, Otaegui D, Castillo-Triviño T, Izquierdo G, Malhotra S, Bosch E, Navarro A, Alcina A, Montalban X, Matesanz F, Comabella M. 2020. A New Risk Variant for Multiple Sclerosis at 11q23.3 Locus Is Associated with Expansion of CXCR5+ Circulating Regulatory T Cells. Journal of Clinical Medicine, 9(3):625. DOI: 10.3390/jcm9030625
Gil-Varea E; Spataro N; Villar L.M.; Tejeda-Velarde A.; Midaglia L.; Matesanz F.; Malhotra S.; Eixarch H.; Patsopoulos N.; Fernández Ó.; Oliver-Martos B.; Saiz A. Llufriu S.; Ramió-Torrentà L.; Quintana E.; Izquierdo G.; Alcina A.; Bosch E.; Navarro A.; Montalban X.; Comabella M. 2020. Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes.. Human Mutation. doi: 10.1002/humu.24016
Gelabert P, Sandoval-Velasco M, Serres A, de Manuel M, Renom P, Margaryan A, Stiller J, de-Dios T, Fang Q, Feng S, Mañosa S, Pacheco G, Ferrando-Bernal M, Shi G, Hao F, Chen X, Petersen B, Olsen RA, Navarro A, Deng Y, Dalén L, Marquès-Bonet T, Zhang G, Antunes A, Gilbert MTP, Lalueza-Fox C. 2020. Evolutionary History, Genomic Adaptation to Toxic Diet, and Extinction of the Carolina Parakeet. Current Biology, 30(1):108-114. DOI: 10.1016/j.cub.2019.10.066
Farré X, Spataro N, Haziza F, Rambla J, Navarro A. 2020. Genome-phenome explorer (GePhEx): a tool for the visualization and interpretation of phenotypic relationships supported by genetic evidence. Bioinformatics, 36(3):890–896. DOI: 10.1093/bioinformatics/btz622
Brasó-Vives M, Povolotskaya IS, Hartasánchez DA, Farré X, Fernandez-Callejo M, Raveendran M, Alan Harris R, Rosene DL, Lorente-Galdos B, Navarro A, Marques-Bonet T, Rogers J, Juan D. 2020. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genetics, 16(5). DOI: 10.1371/journal.pgen.1008742
Martorell L, Muntané G, Porta-López S, Moreno I, Ortega L, Montalvo I, Sanchez-Gistau V, Monseny R, Labad J, Vilella E. 2019. Increased levels of serum leptin in the early stages of psychosis. Journal of Psychiatric Research, 111:24-29. DOI:10.1016/j.jpsychires.2019.01.006
Telford M, Navarro A, Santpere G. 2018. Whole genome diversity of inherited chromosomally integrated HHV-6 derived from healthy individuals of diverse geographic origin. Scientific Reports, 8(1):3472. DOI:10.1038/s41598-018-21645-x
Santpere G, Garcia-Esparcia P, Andres-Benito P, Lorente-Galdos B, Navarro A, Ferrer I. 2018. Transcriptional network analysis in frontal cortex in Lewy body diseases with focus on dementia with Lewy bodies. Brain Pathology, 28(3):315-333. DOI:10.1111/bpa.12511
Muntané G, Farré X, Rodríguez JA, Pegueroles C, Hughes DA, de Magalhães JP, Gabaldón T, Navarro A 2018. Biological processes modulating longevity across primates: A phylogenetic genome-phenome analysis. Molecular Biology and Evolution, 35(8):1990-2004. DOI:10.1093/molbev/msy105
Martínez R, Esteve-Codina A, Herrero-Nogareda L, Ortiz-Villanueva E, Barata C, Tauler R, Raldúa D, Piña B, Navarro-Martín L. 2018. Dose-dependent transcriptomic responses of zebrafish eleutheroembryos to Bisphenol A. Environmental Pollution, 243:988-997. DOI:10.1016/j.envpol.2018.09.043
Martínez H, Barrachina S, Castillo M, Quintana-OrtÍ ES, Rambla de Argila J, Farré X, Navarro A. 2018. FaST-LMM for Two-Way Epistasis Tests on High-Performance Clusters. Journal of Computational Biology, 25(8):862-870. DOI:10.1089/cmb.2018.0087
Marigorta UM, Rodríguez JA, Gibson G, Navarro A. 2018. Replicability and Prediction: Lessons and Challenges from GWAS. Trends in Genetics, 34(7):504-517. DOI:10.1016/j.tig.2018.03.005
Malhotra S, Sorosina M, Río J, Peroni S, Midaglia L, Villar LM, Álvarez-Cermeño JC, Schroeder I, Esposito F, Clarelli F, Zettl UK, Lechner-Scott J, Spataro N, Navarro A, Comi G, Montalban X, Martinelli-Boneschi F, Comabella M. 2018. NLRP3 polymorphisms and response to interferon-beta in multiple sclerosis patients. Multiple Sclerosis Journal, 24(11):1507-1510. DOI:10.1177/1352458517739137
Hernandez-Rodriguez J, Arandjelovic M, Lester J, de Filippo C, Weihmann A, Meyer M, Angedakin S, Casals F, Navarro A, Vigilant L, Kühl HS, Langergraber K, Boesch C, Hughes D, Marques-Bonet T. 2018. The impact of endogenous content, replicates and pooling on genome capture from faecal samples. Molecular Ecology Resources, 18(2):319-333. DOI:10.1111/1755-0998.12728
Hartasanchez DA, Braso-Vives M, Heredia-Genestar JM, Pybus M, Navarro A. 2018. Effect of collapsed duplications on diversity estimates: What to expect. Genome Biology and Evolution, 10(11):2899-2905. DOI:10.1093/gbe/evy223
Eraso-Pichot A, Brasó-Vives M, Golbano A, Menacho C, Claro E, Galea E, Masgrau R. 2018. GSEA of mouse and human mitochondriomes reveals fatty acid oxidation in astrocytes. Glia, 66(8):1724-1735. DOI:10.1002/glia.23330
Spataro N, Rodríguez JA, Navarro A, Bosch E. 2017. Properties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology. Human Molecular Genetics, 26(3):489-500. DOI:10.1093/hmg/ddw405
Solis-Moruno M, de Manuel M, Hernandez-Rodriguez J, Fontsere C, Gomara-Castaño A, Valsera-Naranjo C, Crailsheim D, Navarro A, Llorente M, Riera L, Feliu-Olleta O, Marques-Bonet T. 2017. Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. Scientific Reports, 7(1):1-8. DOI:10.1038/s41598-017-15544-w
Serres-Armero A, Povolotskaya IS, Quilez J, Ramirez O, Santpere G, Kuderna LFK, Hernandez-Rodriguez J, Fernandez-Callejo M, Gomez-Sanchez D, Freedman AH, Fan Z, Novembre J, Navarro A, Boyko A, Wayne R, Vilà C, Lorente-Galdos B, Marques-Bonet T. 2017. Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing. BMC Genomics, 18(1):1-15. DOI:10.1186/s12864-017-4318-x
Rodríguez JA, Marigorta UM, Hughes DA, Spataro N, Bosch E, Navarro A. 2017. Antagonistic pleiotropy and mutation accumulation influence human senescence and disease. Nature Ecology and Evolution, 1(3):1-5. DOI:10.1038/s41559-016-0055
Ravinet M, Faria R, Butlin RK, Galindo J, Bierne N, Rafajlović M, Noor MAF, Mehlig B, Westram AM. 2017. Interpreting the genomic landscape of speciation: a road map for finding barriers to gene flow. Journal of Evolutionary Biology, 30(8):1450-1477. DOI:10.1111/jeb.13047
Muntané G.; Santpere G.; Verendeev A.; Seeley W.W.; Jacobs B.; Hopkins W.D.; Navarro A.; Sherwood C.C. 2017. Erratum to: Interhemispheric gene expression differences in the cerebral cortex of humans and macaque monkeys (Brain Structure and Function, (2017), 222, 7, (3241-3254), 10.1007/s00429-017-1401-7). Brain Structure and Function, 227(7):3367-3368
Muntané G, Santpere G, Verendeev A, Seeley WW, Jacobs B, Hopkins WD, Navarro A, Sherwood CC. 2017. Interhemispheric gene expression differences in the cerebral cortex of humans and macaque monkeys. Brain Structure and Function, 222(7):1-14. DOI:10.1007/s00429-017-1401-7
Martínez H, Barrachina S, Castillo M, Quintana-Ortí ES, Rambla De Argila J, Farré X, Navarro A. 2017. Accelerating FaST-LMM for Epistasis Tests. Nonlinear Digital Filters. Springer US, vol 10393:548-557. DOI:10.1007/978-3-319-65482-9_40
Marques JP, Sotelo G, Larsson T, Johannesson K, Panova M, Faria R. 2017. Comparative mitogenomic analysis of three species of periwinkles: Littorina fabalis, L. obtusata and L. saxatilis. Marine Genomics, 32:41-47. DOI:10.1016/j.margen.2016.10.006
Mandage R, Telford M, Rodríguez JA, Farré X, Layouni H, Marigorta UM, Cundiff C, Heredia-Genestar JM, Navarro A, Santpere G. 2017. Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples. PLoS ONE, 12(6):1-19. DOI:10.1371/journal.pone.0179446
Kuderna LFK, Tomlinson C, Hillier LW, Tran A, Fiddes IT, Armstrong J, Laayouni H, Gordon D, Huddleston J, Garcia Perez R, Povolotskaya I, Serres Armero A, Gómez Garrido J, Ho D, Ribeca P, Alioto T, Green RE, Paten B, Navarro A, Betranpetit J, Herrero J, Eichler EE, Sharp AJ, Feuk L, Warren WC, Marques-Bonet T. 2017. A 3-way hybrid approach to generate a new high-quality chimpanzee reference genome. GigaScience,6(11):1-6. DOI:10.1093/gigascience/gix098
Kolora SR, Faria R, Weigert A, Schaffer S, Grimm A, Henle K, Sahyoun AH, Stadler PF, Nowick K, Bleidorn C, Schlegel M. The complete mitochondrial genome of Lacerta bilineata and comparison with its closely related congener L. Viridis. Mitochondrial DNA Part A, 28(1):116-118. DOI:10.3109/19401736.2015.1111349
Gouy A, Daub JT, Excoffier L. 2017. Detecting gene subnetworks under selection in biological pathways. Nucleic Acids Research, 45(16):e149-e149. DOI:10.1093/nar/gkx626
Gaubert P, Patel RP, Veron G, Goodman SM, Willsch M, Vasconcelos R, Lourenço A, Sigaud M, Justy F, Joshi BD, Fickel J, Wilting A. 2017. Phylogeography of the small indian civet and origin of introductions to western indian ocean islands. Journal of Heredity, 108(3):270-279. DOI:10.1093/jhered/esw085
Fernández C, Bellosillo B, Ferraro M, Seoane A, Sánchez-González B, Pairet S, Pons A, Barranco L, Vela MC, Gimeno E, Colomo L, Besses C, Navarro A, Salar A. 2017. MicroRNAs 142-3p, miR-155 and miR-203 are deregulated in gastric MALT lymphomas compared to chronic gastritis. Cancer Genomics and Proteomics, 14(1):75-82. DOI:10.21873/cgp.20020
Alanis-Lobato G, Andrade-Navarro MA, Schaefer MH. 2017. HIPPIE v2.0: Enhancing meaningfulness and reliability of protein-protein interaction networks. Nucleic Acids Research, 45(D1):D408-D414. DOI:10.1093/nar/gkw985
Stange J, Dickhaus T, Navarro A, Schunk D. 2016. Multiplicity- and dependency-adjusted p-values for control of the family-wise error rate. Statistics and Probability Letters, 111:32-40. DOI:10.1016/j.spl.2016.01.005
Santpere G, Lopez-Valenzuela M, Petit-Marty N, Navarro A, Espinosa-Parrilla Y. 2016. Differences in molecular evolutionary rates among microRNAs in the human and chimpanzee genomes. BMC Genomics, 17(1):1-12. DOI:10.1186/s12864-016-2863-3
Pinho C, Faria R. 2016. Magadi tilapia ecological specialization: Filling the early gap in the speciation continuum. Molecular Ecology, 25(7):1420-1422. DOI:10.1111/mec.13598
Mieth B, Kloft M, Rodríguez JA, Sonnenburg S, Vobruba R, Morcillo-Suárez C, Farré X, Marigorta UM, Fehr E, Dickhaus T, Blanchard G, Schunk D, Navarro A, Müller KR. 2016. Combining multiple hypothesis testing with machine learning increases the statistical power of genome-wide association studies. Scientific Reports, 6(November):1-14. DOI:10.1038/srep36671
Lobon I, Tucci S, de Manuel M, Ghirotto S, Benazzo A, Prado-Martinez J, Lorente-Galdos B, Nam K, Dabad M, Hernandez-Rodriguez J, Comas D, Navarro A, Schierup MH, Andres AM, Barbujani G, Hvilsom C, Marques-Bonet T. 2016. Demographic history of the genus Pan inferred from whole mitochondrial genome reconstructions. Genome Biology and Evolution, 8(6):2020-2030. DOI:10.1093/gbe/evw124
Hartasánchez DA, Brasó-Vives M, Fuentes-Díaz J, Vallès-Codina O, Navarro A. 2016. SeDuS: Segmental duplication simulator. Bioinformatics, 32(1):148-150. DOI:10.1093/bioinformatics/btv481
Gallego A, Melé M, Balcells I, García-Ramallo E, Torruella-Loran I, Fernández-Bellon H, Abelló T, Kondova I, Bontrop R, Hvilsom C, Navarro A, Marquès-Bonet T, Espinosa-Parrilla Y. 2016. Functional Implications of Human-Specific Changes in Great Ape microRNAs. PLoS ONE, 11(4):1-20. DOI:10.1371/journal.pone.0154194
Dopazo J, Amadoz A, Bleda M, Garcia-Alonso L, Alemán A, García-García F, Rodriguez JA, Daub JT, Muntané G, Rueda A, Vela-Boza A, López-Domingo FJ, Florido JP, Arce P, Ruiz-Ferrer M, Méndez-Vidal C, Arnold TE, Spleiss O, Alvarez-Tejado M, Navarro A, Bhattacharya SS, Borrego S, Santoyo-López J, Antiñolo G. 2016. 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Molecular Biology and Evolution, 33(5):1205-1218. DOI:10.1093/molbev/msw005
de Manuel M, Kuhlwilm M, Frandsen P, Sousa VC, Desai T, Prado-Martinez J, Hernandez-Rodriguez J, Dupanloup I, Lao O, Hallast P, Schmidt JM, Heredia-Genestar JM, Benazzo A, Barbujani G, Peter BM, Kuderna LF, Casals F, Angedakin S, Arandjelovic M, Boesch C, Kühl H, Vigilant L, Langergraber K, Novembre J, Gut M, Gut I, Navarro A, Carlsen F, Andrés AM, Siegismund HR, Scally A, Excoffier L, Tyler-Smith C, Castellano S, Xue Y, Hvilsom C, Marques-Bonet T. 2016. Chimpanzee genomic diversity reveals ancient admixture with bonobos. Science, 354(6311):477-481. DOI:10.1126/science.aag2602
Corrales E, Navarro A, Cuenca P, Campos D. 2016. Candidate gene study reveals DRD1 and DRD2 as putative interacting risk factors for youth depression. Psychiatry Research, 244:71-77. DOI:10.1016/j.psychres.2016.07.032
Chavan R, Shinde P, Girkar K, Madage R, Chowdhary A. 2016. Assessment of Anti-Influenza activity and hemagglutination inhibition of Plumbago indica and Allium sativum extracts. Pharmacognosy Research, 8(2):105. DOI:10.4103/0974-8490.172562
Carvalho J, Sotelo G, Galindo J, Faria R. 2016. Genetic characterization of flat periwinkles (Littorinidae) from the Iberian Peninsula reveals interspecific hybridization and different degrees of differentiation. Biological Journal of the Linnean Society, 118(3):503-519. DOI:10.1111/bij.12762
Cagan A, Theunert C, Laayouni H, Santpere G, Pybus M, Casals F, Prüfer K, Navarro A, Marques-Bonet T, Bertranpetit J, Andrés AM. 2016. Natural selection in the great apes. Molecular Biology and Evolution, 33(12):3268-3283. DOI:10.1093/molbev/msw215
Buzdugan L, Kalisch M, Navarro A, Schunk D, Fehr E, Bühlmann P. 2016. Assessing statistical significance in multivariable genome wide association analysis. Bioinformatics, 32(13):1990-2000. DOI:10.1093/bioinformatics/btw128
Santpere G, Carnero-Montoro E, Petit N, Serra F, Hvilsom C, Rambla J, Heredia-Genestar JM, Halligan DL, Dopazo H, Navarro A, Bosch E. 2015. Analysis of five gene sets in chimpanzees suggests decoupling between the action of selection on protein-coding and on noncoding elements. Genome Biology and Evolution, 7(6):1490-1505. DOI:10.1093/gbe/evv082
Montes A, Roca G, Sabate S, Lao JI, Navarro A, Cantillo J, Canet J; GENDOLCAT Study Group. 2015. Genetic and Clinical Factors Associated with Chronic Postsurgical Pain after Hernia Repair, Hysterectomy, and Thoracotomy: A Two-year Multicenter Cohort Study. Anesthesiology, 122(5):1123-1141. DOI:10.1097/ALN.0000000000000611
Lappalainen I, Almeida-King J, Kumanduri V, Senf A, Spalding JD, Ur-Rehman S, Saunders G, Kandasamy J, Caccamo M, Leinonen R, Vaughan B, Laurent T, Rowland F, Marin-Garcia P, Barker J, Jokinen P, Torres AC, de Argila JR, Llobet OM, Medina I, Puy MS, Alberich M, de la Torre S, Navarro A, Paschall J, Flicek P. 2015. The European Genome-phenome Archive of human data consented for biomedical research. Nature Genetics, 47(7):692-695. DOI:10.1038/ng.3312
Hughes DA, Kircher M, He Z, Guo S, Fairbrother GL, Moreno CS, Khaitovich P, Stoneking M. 2015. Evaluating intra- and inter-individual variation in the human placental transcriptome. Genome Biology, 16(1):1-18. DOI:10.1186/s13059-015-0627-z
Bustamante MF, Morcillo-Suárez C, Malhotra S, Rio J, Leyva L, Fernández O, Zettl UK, Killestein J, Brassat D, García-Merino JA, Sánchez AJ, Urcelay E, Alvarez-Lafuente R, Villar LM, Alvarez-Cermeño JC, Farré X, Lechner-Scott J, Vandenbroeck K, Rodríguez-Antigüedad A, Drulovic JS, Martinelli Boneschi F, Chan A, Oksenberg J, Navarro A, Montalban X, Comabella M. 2015. Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β. Neurology: Neuroimmunology and NeuroInflammation, 2(5):e154. DOI:10.1212/NXI.0000000000000154
Sotelo G, Andree KB, López MA, Alexandrino P, Gisbert E. 2014. The puzzling demographic history and genetic differentiation of the twaite shad (Alosa fallax) in the Ebro River. Conservation Genetics, 15(5):1037-1052. DOI:10.1007/s10592-014-0597-9
Santpere G, Darre F, Blanco S, Alcami A, Villoslada P, Mar Albà M, Navarro A. 2014. Genome-wide analysis of wild-type epstein-barr virus genomes derived from healthy individuals of the 1000 genomes project. Genome Biology and Evolution, 6(4):846-860. DOI:10.1093/gbe/evu054
Rodríguez JA, Marigorta UM, Navarro A. 2014. Integrating genomics into evolutionary medicine. Current Opinion in Genetics and Development, 29:97-102. DOI:10.1016/j.gde.2014.08.009
Pineda S, Milne RL, Calle ML, Rothman N, López de Maturana E, Herranz J, Kogevinas M, Chanock SJ, Tardón A, Márquez M, Guey LT, García-Closas M, Lloreta J, Baum E, González-Neira A, Carrato A, Navarro A, Silverman DT, Real FX, Malats N. 2014. Genetic variation in the TP53 pathway and bladder cancer risk. A comprehensive analysis. PLoS ONE, 9(5):1-8. DOI:10.1371/journal.pone.0089952
Olalde I, Sánchez-Quinto F, Datta D, Marigorta UM, Chiang CW, Rodríguez JA, Fernández-Callejo M, González I, Montfort M, Matas-Lalueza L, Civit S, Luiselli D, Charlier P, Pettener D, Ramírez O, Navarro A, Himmelbauer H, Marquès-Bonet T, Lalueza-Fox C. 2014. Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France. Scientific Reports, 4:1-7. DOI:10.1038/srep04666
Olalde I, Allentoft ME, Sánchez-Quinto F, Santpere G, Chiang CW, DeGiorgio M, Prado-Martinez J, Rodríguez JA, Rasmussen S, Quilez J, Ramírez O, Marigorta UM, Fernández-Callejo M, Prada ME, Encinas JM, Nielsen R, Netea MG, Novembre J, Sturm RA, Sabeti P, Marquès-Bonet T, Navarro A, Willerslev E, Lalueza-Fox C. 2014. Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European. Nature, 507(7491):225-228. DOI:10.1038/nature12960
Navarro A, Faria R. 2014. Pool and conquer: New tricks for (c)old problems. Molecular Ecology, 23(7):1653-1655. DOI:10.1111/mec.12685
Hartasánchez DA, Vallès-Codina O, Brasó-Vives M, Navarro A. 2014. Interplay of interlocus gene conversion and crossover in segmental duplications under a neutral scenario. G3: Genes, Genomes, Genetics, 4(8):1479-1489. DOI:10.1534/g3.114.012435
Faria R, Renaut S, Galindo J, Pinho C, Melo-Ferreira J, Melo M, Jones F, Salzburger W, Schluter D, Butlin R. 2014. Advances in Ecological Speciation: An integrative approach. Molecular Ecology, 23(3):513-521. DOI:10.1111/mec.12616
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. 2013. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurology, 70(6):764-771. DOI:10.1001/jamaneurol.2013.2311
Segarra G, Santpere G, Elena G, Trillas I. 2013. Enhanced Botrytis cinerea Resistance of Arabidopsis Plants Grown in Compost May Be Explained by Increased Expression of Defense-Related Genes, as Revealed by Microarray Analysis. PLoS ONE, 8(2). DOI:10.1371/journal.pone.0056075
Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prüfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubí C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andrés AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T. 2013. Great ape genetic diversity and population history. Nature, 499(7459):471-475. DOI:10.1038/nature12228
Prado-Martinez J, Hernando-Herraez I, Lorente-Galdos B, Dabad M, Ramirez O, Baeza-Delgado C, Morcillo-Suarez C, Alkan C, Hormozdiari F, Raineri E, Estellé J, Fernandez-Callejo M, Valles M, Ritscher L, Schöneberg T, de la Calle-Mustienes E, Casillas S, Rubio-Acero R, Melé M, Engelken J, Caceres M, Gomez-Skarmeta JL, Gut M, Bertranpetit J, Gut IG, Abello T, Eichler EE, Mingarro I, Lalueza-Fox C, Navarro A, Marques-Bonet T. 2013. The genome sequencing of an albino Western lowland gorilla reveals inbreeding in the wild. BMC Genomics, 14(1). DOI:10.1186/1471-2164-14-363
Marigorta UM, Navarro A. 2013. High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants. PLoS Genetics, 9(6). DOI:10.1371/journal.pgen.1003566
Malhotra S, Morcillo-Suárez C, Nurtdinov R, Rio J, Sarro E, Moreno M, Castilló J, Navarro A, Montalban X, Comabella M. 2013. Roles of the ubiquitin peptidase USP18 in multiple sclerosis and the response to interferon-β treatment. European Journal of Neurology, 20(10):1390-1397. DOI:10.1111/ene.12193
Lorente-Galdos B, Bleyhl J, Santpere G, Vives L, Ramírez O, Hernandez J, Anglada R, Cooper GM, Navarro A, Eichler EE, Marques-Bonet T. 2013. Accelerated exon evolution within primate segmental duplications. Genome Biology, 14(1):R9. DOI: 10.1186/gb-2013-14-1-r9
Hernando-Herraez I, Prado-Martinez J, Garg P, Fernandez-Callejo M, Heyn H, Hvilsom C, Navarro A, Esteller M, Sharp AJ, Marques-Bonet T. 2013. Dynamics of DNA Methylation in Recent Human and Great Ape Evolution. PLoS Genetics, 9(9). DOI:10.1371/journal.pgen.1003763
Fossion R, Hartasánchez DA, Resendis-Antonio O, Frank A. 2013. Criticality, adaptability and early-warning signals in time series in a discrete quasispecies model. Frontiers in Biology, 8(2):247-259. DOI:10.1007/s11515-013-1256-0
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
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
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
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