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Browsing Center for Genomic Regulation (CRG) by Subject "Data integration"

Browsing Center for Genomic Regulation (CRG) by Subject "Data integration"

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  • Cell type-specific properties and environment shape tissue specificity of cancer genes
    Schaefer, Martin H.; Serrano Pubull, Luis, 1982- (Nature Publishing Group, 2016)
    One of the biggest mysteries in cancer research remains why mutations in certain genes cause cancer only at specific sites in the human body. The poor correlation between the expression level of a cancer gene and the tissues ...
  • Comprehensive quantitative modeling of translation efficiency in a genome-reduced bacterium
    Weber, Marc; Sogues, Adrià; Yus, Eva; Burgos, Raul; Gallo López, Carolina, 1984-; Martínez, Sira; Lluch-Senar, Maria 1982-; Serrano Pubull, Luis, 1982- (EMBO Press, 2023)
    Translation efficiency has been mainly studied by ribosome profiling, which only provides an incomplete picture of translation kinetics. Here, we integrated the absolute quantifications of tRNAs, mRNAs, RNA half-lives, ...
  • Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models
    Allesøe, Rosa Lundbye; IMI DIRECT Consortium (Nature Research, 2023)
    The application of multiple omics technologies in biomedical cohorts has the potential to reveal patient-level disease characteristics and individualized response to treatment. However, the scale and heterogeneous nature ...
  • Expanded encyclopaedias of DNA elements in the human and mouse genomes
    ENCODE Project Consortium; Moore, Jill E.; Guigó Serra, Roderic; Weng, Zhiping (Nature Research, 2020)
    The human and mouse genomes contain instructions that specify RNAs and proteins and govern the timing, magnitude, and cellular context of their production. To better delineate these elements, phase III of the Encyclopedia ...
  • Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
    Barbeira, Alvaro N.; Dickinson, Scott P.; Bonazzola, Rodrigo; Zheng, Jiamao; Wheeler, Heather E.; Torres, Jason M.; Torstenson, Eric S.; Shah Kaanan P.; Garcia, Tzintzuni; Edwards, Todd L.; Stahl, Eli A.; Huckins, Laura M.; GTEx Consortium; Nicolae, Dan L.; Cox, Nancy J.; Im, Hae Kyung (Nature Publishing Group, 2018)
    Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary ...
  • Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
    Brown, Andrew A.; DIRECT Consortium; Viñuela, Ana (Nature Research, 2023)
    We evaluate the shared genetic regulation of mRNA molecules, proteins and metabolites derived from whole blood from 3029 human donors. We find abundant allelic heterogeneity, where multiple variants regulate a particular ...
  • The impact of rare variation on gene expression across tissues
    Li, Xin; Guigó Serra, Roderic; Montgomery, Stephen B.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, ...
  • Transcriptomic diversity in human medullary thymic epithelial cells
    Carter, Jason A.; Strömich, Léonie; Peacey, Matthew; Chapin, Sarah R.; Velten, Lars; Steinmetz, Lars M.; Brors, Benedikt; Pinto, Sheena; Meyer, Hannah V. (Nature Research, 2022)
    The induction of central T cell tolerance in the thymus depends on the presentation of peripheral self-epitopes by medullary thymic epithelial cells (mTECs). This promiscuous gene expression (pGE) drives mTEC transcriptomic ...
  • Transcriptomic diversity in human medullary thymic epithelial cells
    Carter, Jason A.; Strömich, Léonie; Peacey, Matthew; Chapin, Sarah R.; Velten, Lars; Steinmetz, Lars M.; Brors, Benedikt; Pinto, Sheena; Meyer, Hannah V. (Nature Research, 2022)
    The induction of central T cell tolerance in the thymus depends on the presentation of peripheral self-epitopes by medullary thymic epithelial cells (mTECs). This promiscuous gene expression (pGE) drives mTEC transcriptomic ...

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