Browsing by Author "Garrido Martín, Diego, 1992-"

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  • A fast non-parametric test of association for multiple traits
    Garrido Martín, Diego, 1992-; Calvo, Miquel (Calvo Llorca); Reverter, Ferran; Guigó Serra, Roderic (BioMed Central, 2023)
    The increasing availability of multidimensional phenotypic data in large cohorts of genotyped individuals requires efficient methods to identify genetic effects on multiple traits. Permutational multivariate analysis of ...
  • A limited set of transcriptional programs define major cell types
    Breschi, Alessandra, 1988-; Muñoz-Aguirre, Manuel; Wucher, Valentin; Davis, Carrie A.; Garrido Martín, Diego, 1992-; Djebali, Sarah; Gillis, Jesse; Pervouchine, Dmitri D.; Vlasova, Anna; Dobin, Alexander; Zaleski, Chris; Drenkow, Jorg; Danyko, Cassidy; Scavelli, Alexandra; Reverter, Ferran; Snyder, Michael; Gingeras, Thomas R.; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    We have produced RNA sequencing data for 53 primary cells from different locations in the human body. The clustering of these primary cells reveals that most cells in the human body share a few broad transcriptional programs, ...
  • Effect of BDNF Val66Met on hippocampal subfields volumes and compensatory interaction with APOE-ε4 in middle-age cognitively unimpaired individuals from the ALFA study
    Vilor Tejedor, Natàlia, 1988-; Operto, Grégory; Evans, Tavia E.; Falcón, Carles; Crous-Bou, Marta; Minguillón, Carolina; Cacciaglia, Raffaele; Milà Alomà, Marta; Grau-Rivera, Oriol; Suárez-Calvet, Marc; Garrido Martín, Diego, 1992-; Morán, Sebastián; Esteller, Manel; Adams, Hieab H.; Molinuevo, José Luis; Guigó Serra, Roderic; Gispert López, Juan Domingo; ALFA Study (Springer, 2020)
    Background: Current evidence supports the involvement of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism, and the ε4 allele of APOE gene in hippocampal-dependent functions. Previous studies on the association ...
  • Effect of the sequence data deluge on the performance of methods for detecting protein functional residues
    Garrido Martín, Diego, 1992-; Pazos, Florencio (BioMed Central, 2018)
    Background: The exponential accumulation of new sequences in public databases is expected to improve the performance of all the approaches for predicting protein structural and functional features. Nevertheless, this was ...
  • Functional annotation of human long noncoding RNAs via molecular phenotyping
    Ramilowski, Jordan A.; Borsari, Beatrice, 1992-; Garrido Martín, Diego, 1992-; Muñoz-Aguirre, Manuel; Nurtdinov, Ramil; Guigó Serra, Roderic; Carninci, Piero (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    Long noncoding RNAs (lncRNAs) constitute the majority of transcripts in the mammalian genomes, and yet, their functions remain largely unknown. As part of the FANTOM6 project, we systematically knocked down the expression ...
  • Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
    Chen, Lu; Garrido Martín, Diego, 1992-; Guigó Serra, Roderic; Soranzo, Nicole (Elsevier, 2016)
    Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We carried out high-resolution genetic, epigenetic, and transcriptomic ...
  • ggsashimi: Sashimi plot revised for browser- and annotation-independent splicing visualization
    Garrido Martín, Diego, 1992-; Palumbo, Emilio; Guigó Serra, Roderic; Breschi, Alessandra, 1988- (Public Library of Science (PLoS), 2018)
    We present ggsashimi, a command-line tool for the visualization of splicing events across multiple samples. Given a specified genomic region, ggsashimi creates sashimi plots for individual RNA-seq experiments as well as ...
  • Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
    Garrido Martín, Diego, 1992-; Borsari, Beatrice, 1992-; Calvo, Miquel (Calvo Llorca); Reverter, Ferran; Guigó Serra, Roderic (Nature Research, 2021)
    Alternative splicing (AS) is a fundamental step in eukaryotic mRNA biogenesis. Here, we develop an efficient and reproducible pipeline for the discovery of genetic variants that affect AS (splicing QTLs, sQTLs). We use it ...
  • Multivariate Analysis and Modelling of multiple Brain endOphenotypes: Let's MAMBO!
    Vilor Tejedor, Natàlia, 1988-; Garrido Martín, Diego, 1992-; Rodriguez-Fernandez, Blanca; Lamballais, Sander; Guigó Serra, Roderic; Gispert López, Juan Domingo (Elsevier, 2021)
    Imaging genetic studies aim to test how genetic information influences brain structure and function by combining neuroimaging-based brain features and genetic data from the same individual. Most studies focus on individual ...
  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
    Astle, William J.; Garrido Martín, Diego, 1992-; Guigó Serra, Roderic; Soranzo, Nicole (Elsevier, 2016)
    Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL ...

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