Browsing by Author "Bonet, Núria"

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  • A forensic population database in El Salvador: 58 STRs and 94 SNPs
    Casals López, Ferran; Rasal Soteras, Raquel; Anglada Busquets, Roger; Tormo, Marc; Bonet, Núria; Rivas, Nury; Vásquez, Patricia; Calafell i Majó, Francesc (Elsevier, 2021)
    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 a sample of 248 men and 143 women from El Salvador, Central America. Regional division (Centro, ...
  • Assessment of the gene mosaicism burden in blood and its implications for immune disorders
    Solís Moruno, Manuel, 1993-; Mensa Vilaró, Anna; Batlle Masó, Laura, 1993-; Lobon Garcia, Irene; Bonet, Núria; Marquès i Bonet, Tomàs, 1975-; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2021)
    There are increasing evidences showing the contribution of somatic genetic variants to non-cancer diseases. However, their detection using massive parallel sequencing methods still has important limitations. In addition, ...
  • Genome-wide postnatal changes in immunity following fetal inflammatory response
    Costa, Daniel; Bonet, Núria; Solé, Amanda; González de Aledo-Castillo, José Manuel; Sabidó Aguadé, Eduard, 1981-; Casals López, Ferran; Rovira, Carlota; Nadal, Alfons; Marin, Jose Luis; Cobo, Teresa; Castelo Valdueza, Robert (Wiley, 2021)
    The fetal inflammatory response (FIR) increases the risk of perinatal brain injury, particularly in extremely low gestational age newborns (ELGANs, < 28 weeks of gestation). One of the mechanisms contributing to such a ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Signatures of evolutionary adaptation in quantitative trait loci influencing trace element homeostasis in liver
    Engelken, Johannes; Espadas, Guadalupe; Mancuso, Francesco M.; Bonet, Núria; Scherr, Anna-Lena; Jímenez Álvarez, Victoria; Codina i Solà, Marta, 1988-; Medina Stacey, Daniel; Spataro, Nino, 1984-; Stoneking, Mark; Calafell i Majó, Francesc; Sabidó Aguadé, Eduard, 1981-; Bosch Fusté, Elena (Oxford University Press, 2016)
    Essential trace elements possess vital functions at molecular, cellular, and physiological levels in health and disease, and they are tightly regulated in the human body. In order to assess variability and potential adaptive ...
  • Somatic genetic variation in healthy tissue and non-cancer diseases
    Solís Moruno, Manuel, 1993-; Batlle Masó, Laura, 1993-; Bonet, Núria; Aróstegui Gorospe, Juan Ignacio; Casals López, Ferran (Nature Research, 2023)
    Somatic genetic variants have been studied for several years mostly concerning cancer, where they contribute to its origin and development. It is also clear that the somatic variants load is greater in aged individuals in ...

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