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

Principal Investigator

Arcadi Navarro Cuartiellas

Navarro Cuartiellas, Arcadi
ICREA Research Professor
Evolutionary Genomics Lab

Current members

Barteri, Fabio
Personal de suport a la recerca
Evolutionary Genomics

Gerard Muntané Medina

Muntané Medina, Gerard
Visiting- Associate professor
Evolutionary Genomics Lab

Ongoing projects

Publications

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

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. 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; 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

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

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 USvol 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

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