Browsing by Author "Calafell i Majó, Francesc"

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  • Història natural de les malalties genètiques mendelianes i complexes
    Lao Grueso, Oscar (Universitat Pompeu Fabra, 2011-04-12)
    Las enfermedades genéticas se clasifican típicamente en dos grandes grupos: las enfermedades mendelianas y las enfermedades complejas. Mientras que las enfermedades mendelianas se caracterizan por ser de baja frecuencia ...
  • Human population genomics of the Western Mediterranean
    Biagini, Simone Andrea (Universitat Pompeu Fabra, 2019-07-23)
    This work explores the genetic landscape of the Western Mediterranean basin. Genome-wide data have been used in order to describe the genetics of the Island of Ibiza and France. In the first case, we found Ibiza being ...
  • Incorporating recombination into the study of recent human evolutionary history
    Melé Messeguer, Marta (Universitat Pompeu Fabra, 2011-05-12)
    En aquest treball es pretén utilitzar la informació que deixa la recombinació al nostres genomes per fer inferències sobre la història evolutiva recent de les poblacions humanes. Per fer-ho, s’ha desenvolupat un mètode ...
  • Inferring recent human population history from a Y chromosome perspective
    Solé Morata, Neus (Universitat Pompeu Fabra, 2018-05-10)
    The Y chromosome is the longest non-recombining DNA sequence of the human genome. This avoidance of recombination, together with its paternal inheritance, makes the Y chromosome a powerful tool with which to study population ...
  • Interrogating eleven fast-evolving genes for signatures of recent positive selection in worldwide human populations
    Moreno Estrada, Andrés; Bosch Fusté, Elena; Stoneking, Mark; Bertranpetit, Jaume, 1952-; Calafell i Majó, Francesc; Navarro i Cuartiellas, Arcadi, 1969-; Casals López, Ferran; Tang, Kun; Marquès i Bonet, Tomàs, 1975-; Sikora, Martin, 1976- (Oxford University Press, 2009)
    Different signatures of natural selection persist over varying time scales in our genome, revealing possible episodes of adaptative evolution during human history. Here, we identify genes showing signatures of ancestral ...
  • Length and repeat-sequence variation in 58 STRs and 94 SNPs in two Spanish populations
    Casals López, Ferran; Anglada Busquets, Roger; Bonet, Núria; Rasal Soteras, Raquel; van der Gaag, Kristiaan J.; Hoogenboom, Jerry; Solé Morata, Neus, 1988-; Comas, David, 1969-; Calafell i Majó, Francesc (Elsevier, 2017)
    We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive ...
  • Linguistic and maternal genetic diversity are not correlated in native mexicans
    Sandoval Mendoza, Karla; Buentello Malo, Leonor; Peñaloza Espinosa, Rosenda; Avelino, Heriberto; Salas, Antonio; Calafell i Majó, Francesc; Comas, David, 1969- (Springer, 2009)
    Mesoamerica, defined as the broad linguistic and cultural area from middle southern Mexico to Costa Rica, might have played a pivotal role during the colonization of the/nAmerican continent. It has been suggested that the ...
  • Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease
    Spataro, Nino, 1984-; Calafell i Majó, Francesc; Cervera-Carles, Laura; Casals López, Ferran; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Lleó, Alberto; Navarro i Cuartiellas, Arcadi, 1969-; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Oxford University Press, 2015)
    Parkinson's disease (PD) can be divided into familial (Mendelian) and sporadic forms. A number of causal genes have been discovered for the Mendelian form, which constitutes 10-20% of the total cases. Genome-wide association ...
  • Methodological preparation and characteritzation of the microbial ecology on the skin
    Garcia i Garcerà, Marc (Universitat Pompeu Fabra, 2013-07-23)
    The study of skin microbiota has always been focused from a clinical point of view. However, an ecological approach to the skin microbiota is impeded by different methodological limitations, including the high host/microbial ...
  • Minimizing recombinations in consensus networks for phylogeographic studies
    Parida, Laxmi; Javed, Asif; Melé Messeguer, Marta, 1982-; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952-; Genographic Consortium (BioMed Central, 2009)
    Background: We address the problem of studying recombinational variations in (human) populations. In this paper, our focus is on one computational aspect of the general task: Given two networks G1 and G2, with both mutation ...
  • A new method for extracting skin microbes allows metagenomic analysis of whole-deep skin
    García Garcerà, Marc; Garcia Etxebarria, Koldo; Coscollà, Mireia; Latorre, Amparo; Calafell i Majó, Francesc (Public Library of Science (PLoS), 2013)
    In the last decade, an extensive effort has been made to characterize the human microbiota, due to its clinical and economic interests. However, a metagenomic approach to the skin microbiota is hampered by the high proportion ...
  • A new method to reconstruct recombination events at a genomic scale
    Melé Messeguer, Marta, 1982-; Javed, Asif; Pybus Oliveras, Marc, 1985-; Calafell i Majó, Francesc; Parida, Laxmi; Bertranpetit, Jaume, 1952-; Genographic Consortium (Public Library of Science (PLoS), 2010)
    Recombination is one of the main forces shaping genome diversity, but the information it generates is often overlooked. A recombination event creates a junction between two parental sequences that may be transmitted to the ...
  • No major host genetic risk factor contributed to A(H1N1)2009 influenza severity
    Garcia Etxebarria, Koldo; Bracho, María Alma; Galán, Juan Carlos; Pumarola, Tomás; Castilla, Jesús; Ortiz de Lejarazu, Raúl; Rodríguez Domínguez, Mario; Quintela Garcia, Ines; Bonet, Núria; García Garcerà, Marc; Domínguez García, Àngela; González Candela, Fernando; Calafell i Majó, Francesc (Public Library of Science (PLoS), 2015)
    While most patients affected by the influenza A(H1N1) pandemic experienced mild symptoms, a small fraction required hospitalization, often without concomitant factors that could explain such a severe course. We hypothesize ...
  • Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data
    Urnikyte, Alina; Flores-Bello, André; Mondal, Mayukh, 1989-; Molyte, Alma; Comas, David, 1969-; Calafell i Majó, Francesc; Bosch Fusté, Elena; Kučinskas, Vaidutis (Nature Research, 2019)
    The analysis of geographically specific regions and the characterization of fine-scale patterns of genetic diversity may facilitate a much better understanding of the microevolutionary processes affecting local human ...
  • People from Ibiza: an unexpected isolate in the Western Mediterranean
    Biagini, Simone Andrea, 1983-; Solé Morata, Neus, 1988-; Matisoo Smith, Elizabeth; Zalloua, Pierre A.; Comas, David, 1969-; Calafell i Majó, Francesc (Springer, 2019)
    In this study, we seek to understand and to correlate the genetic patterns observed in the population of the island of Ibiza in the Western Mediterranean basin with past events. Genome-wide genotypes of 189 samples ...
  • Population analysis of complete mitogenomes for 334 samples from El Salvador
    Aizpurua-Iraola, Julen; Rasal Soteras, Raquel; Prieto, Lourdes; Comas, David, 1969-; Bonet, Núria; Casals López, Ferran; Calafell i Majó, Francesc; Vásquez, Patricia (Elsevier, 2023)
    The use of mitochondrial DNA (mtDNA) in the field of forensic genetics is widely spread mainly due to its advantages when identifying highly degraded samples. In this sense, massive parallel sequencing has made the analysis ...
  • Population genetics of Copy Number Variants: the case of the Romani population
    Antinucci, Marco (Universitat Pompeu Fabra, 2023-03-28)
    Much information has been gathered for the Romani population so far, spanning historical, linguistics and genetics research. While whole genome analyses for this population started only recently, most studies using genetic ...
  • Population genetics of the european Roma-A review
    Ena, Giacomo Francesco; Aizpurua-Iraola, Julen; Font-Porterias, Neus; Calafell i Majó, Francesc; Comas, David, 1969- (MDPI, 2022)
    The Roma are a group of populations with a common origin that share the Romani identity and cultural heritage. Their genetic history has been inferred through multiple studies based on uniparental and autosomal markers, ...
  • Population history modulates the fitness effects of Copy Number Variation in the Roma
    Antinucci, Marco; Comas, David, 1969-; Calafell i Majó, Francesc (Springer, 2023)
    We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from South Asia, the Middle East and Europe. Using CNV calling software for short-read sequence data, we ...
  • Recent common origin, reduced population size, and marked admixture have shaped european Roma genomes
    Bianco, Erica; Laval, Guillaume; Font-Porterias, Neus; García-Fernández, Carla; Dobón Berenguer, Begoña, 1987-; Sabido-Vera, Rubén; Sukarova-Stefanovska, Emilija; Kučinskas, Vaidutis; Makukh, Halyna; Pamjav, Horolma; Quintana Murci, Lluis; Netea, Mihai G; Bertranpetit, Jaume, 1952-; Calafell i Majó, Francesc; Comas, David, 1969- (Oxford University Press, 2020)
    The Roma Diaspora-traditionally known as Gypsies-remains among the least explored population migratory events in historical times. It involved the migration of Roma ancestors out-of-India through the plateaus of Western ...

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