Browsing by Author "Casals López, Ferran"

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  • Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Netea, Mihai G; Casals López, Ferran; Bertranpetit, Jaume, 1952- (Public Library of Science (PLoS), 2011)
    A large proportion of the death toll associated with malaria is a consequence of malaria infection during pregnancy, causing up to 200,000 infant deaths annually. We previously published the first extensive genetic association ...
  • Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Laayouni, Hafid, 1968-; Menéndez, Clara; Mayor, Alfredo; Bardaji, Azucena; Sigauque, Betuel; Mandomando, Inacio; Alonso, Pedro L.; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Oxford University Press, 2009)
    Malaria in pregnancy forms a substantial part of the worldwide burden of malaria, with an estimated annual death toll of up to 200,000 infants, as well as increased maternal morbidity and mortality. Studies of genetic ...
  • de Manuel, Marc; Kuhlwilm, Martin; Sousa, Victor C.; Prado Martínez, Javier, 1987-; Hernández Rodríguez, Jéssica, 1983-; Dupanloup, Isabelle; Lao Grueso, Oscar, 1976-; Heredia Genestar, José María; Kuderna, Lukas F.K.; Casals López, Ferran; Angedakin, Samuel; Arandjelovic, Mimi; Boesch, Christophe; Kühl, Hjalmar S.; Vigilant, Linda; Navarro i Cuartiellas, Arcadi, 1969-; Excoffier, Laurent; Marquès i Bonet, Tomàs, 1975- (American Association for the Advancement of Science (AAAS), 2016)
    Our closest living relatives, chimpanzees and bonobos, have a complex demographic history. We analyzed the high-coverage whole genomes of 75 wild-born chimpanzees and bonobos from 10 countries in Africa. We found that ...
  • Bosch Fusté, Elena; Laayouni, Hafid, 1968-; Morcillo Suárez, Carlos, 1969-; Casals López, Ferran; Moreno Estrada, Andrés; Ferrer Admetlla, Anna; Gardner, Michelle; Rosa, Araceli; Comas, David, 1969-; Graffelman, Jan; Calafell i Majó, Francesc; Bertranpetit, Jaume, 1952- (BioMed Central, 2009)
    Background: It is well known that the pattern of linkage disequilibrium varies between human populations, with remarkable geographical stratification. Indirect association studies routinely exploit linkage disequilibrium ...
  • Spataro, Nino, 1984-; Roca-Umbert Würth, Ana; Cervera-Carles, Laura; Vallès, Mònica; Anglada Busquets, Roger; Pagonabarraga, Javier; Pascual Sedano, Berta; Campolongo Perillo, Antònia; Kulisevsky, Jaime J.; Casals López, Ferran; Clarimón Echevarría, Jordi; Bosch Fusté, Elena (Wiley, 2017)
    Background: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. ...
  • Valles Ibáñez, Guillem de, 1986-; Hernández Rodríguez, Jéssica, 1983-; Laayouni, Hafid, 1968-; Cuscó Martí, Ivon, 1973-; Codina i Solà, Marta, 1988-; Batlle Masó, Laura; Solís Moruno, Manuel; Marquès i Bonet, Tomàs, 1975-; Bosch Fusté, Elena; Casals López, Ferran (Frontiers, 2018)
    Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on ...
  • Sikora, Martin, 1976-; Ferrer Admetlla, Anna; Mayor, Alfredo; Bertranpetit, Jaume, 1952-; Casals López, Ferran (Springer, 2008)
    Placental malaria is a special form of malaria that causes up to 200,000 maternal and infant deaths every year. Previous studies show that two receptor molecules, hyaluronic acid and chondroitin sulphate A, are mediating ...
  • Valles Ibáñez, Guillem de, 1986- (Universitat Pompeu Fabra, 2016-11-16)
    Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential truncation of ...
  • Sikora, Martin (Universitat Pompeu Fabra, 2010-06-04)
    Una de les forces selectives més fortes que han afectat a les poblacions humanes en la història més recent és el paràsit de la malària: Plasmodium falciparum, que és la causa de varis exemples d'adaptació induïda per ...
  • Mondal, Mayukh, 1989-; Casals López, Ferran; Majumder, Partha P.; Bertranpetit, Jaume, 1952- (Cold Spring Harbor Laboratory Press (CSHL Press), 2016)
    In a recent paper, we have derived three main conclusions: i) that all Asian and Pacific populations share a single origin and expansion out of Africa, contradicting an earlier proposal of two independent waves; ii) that ...
  • Casals López, Ferran; Sikora, Martin, 1976-; Laayouni, Hafid, 1968-; Montanucci, Ludovica, 1978-; Muntasell i Castellví, Aura, 1972-; Lazarus, Ross; Calafell i Majó, Francesc; Awadalla, Philip; Netea, Mihai G; Bertranpetit, Jaume, 1952- (BioMed Central, 2011)
    Background: Pathogens have represented an important selective force during the adaptation of modern human populations to changing social and other environmental conditions. The evolution of the immune system has therefore ...
  • de Valles-Ibáñez, Guillem; Hernández Rodríguez, Jéssica, 1983-; Prado Martínez, Javier, 1987-; Luisi, Pierre, 1985-; Marquès i Bonet, Tomàs, 1975-; Casals López, Ferran (Oxford University Press, 2016)
    Loss of function (LoF) genetic variants are predicted to disrupt gene function, and are therefore expected to substantially reduce individual's viability. Knowing the genetic burden of LoF variants in endangered species ...
  • Mattle-Greminger, Maja P.; Bilgin Sonay, Tugce; Nater, Alexander; Pybus Oliveras, Marc, 1985-; Desai, Tariq; de Valles-Ibáñez, Guillem; Casals López, Ferran; Scally, Aylwyn; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975-; Van Schaik, Carel P.; Anisimova, Maria; Krützen, Michael (BioMed Central, 2018)
    Background: Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives, ...
  • Mondal, Mayukh, 1989-; Casals López, Ferran; Xu, Tina; Dall'Olio, Giovanni Marco, 1983-; Pybus Oliveras, Marc, 1985-; Netea, Mihai G; Comas, David, 1969-; Laayouni, Hafid, 1968-; Li, Qibin; Majumder, Partha P.; Bertranpetit, Jaume, 1952- (Nature Publishing Group, 2016)
    To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals ...
  • Prado Martínez, Javier, 1987-; Lorente-Galdós, Belén, 1981-; Santpere Baró, Gabriel, 1981-; Casals López, Ferran; Laayouni, Hafid, 1968-; Hernández Rodríguez, Jéssica, 1983-; Hernando Herráez, Irene, 1985-; Pybus Oliveras, Marc, 1985-; Petit, Natalia; Fernández Callejo, Marcos; Dabad, Marc; Carvalho, Tiago Loureiro de, 1987-; Melé Messeguer, Marta, 1982-; Comas, David, 1969-; Navarro i Cuartiellas, Arcadi, 1969-; Bertranpetit, Jaume, 1952-; Marquès i Bonet, Tomàs, 1975- (Nature Publishing Group, 2013)
    Most great ape genetic variation remains uncharacterized1, 2; however, its study is critical for understanding population history3, 4, 5, 6, recombination7, selection8 and susceptibility to disease9, 10. Here we sequence ...
  • Ferrer i Admetlla, Anna (Universitat Pompeu Fabra, 2009-01-07)
    La tesi que teniu a les mans recull quatre treballs amb un objectiu comú; determinar si els patògens (virus, bacteris, paràsits.) han exercit pressions selectives sobre els genomes dels seus hostes (com per exemple els ...
  • Hernández Rodríguez, Jéssica, 1983- (Universitat Pompeu Fabra, 2018-06-08)
    The innovation of genomics has progressed at pace with the development of high-throughput DNA sequencing technologies. Prior to the outbreak of next-generation sequencing, retrieving genetic information was limited to a ...
  • 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 ...
  • 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 ...
  • 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 ...