4,000 results found
    1. Genetics and Genomics

    Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts

    Margaret M Parker et al.
    A functional genetic variant, rs1690789, affects susceptibility to emphysema by altering TGFB2 expression in human lung fibroblasts.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

    Agata Wesolowska-Andersen et al.
    Combination of deep learning models trained on tissue-specific genomic data and fine-mapping approaches supports efforts to identify causal variants and mechanisms at GWAS loci.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genetic interactions affecting human gene expression identified by variance association mapping

    Andrew Anand Brown et al.
    Multiple replicated examples of epistasis affecting gene expression in humans are identified, some explaining a substantial proportion of the variation in expression.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Predicting the effect of statins on cancer risk using genetic variants from a Mendelian randomization study in the UK Biobank

    Paul Carter et al.
    Genetic evidence in humans suggests that statins reduce cancer risk via a cholesterol-independent pathway.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Nuclear genetic regulation of the human mitochondrial transcriptome

    Aminah T Ali et al.
    Common nuclear genetic variants are associated with fundamental biological processes occurring in human mitochondria and potentially point to novel roles for nuclear genes in transcriptional regulation of the mitochondrial genome.
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Uncovering the basis of protein-protein interaction specificity with a combinatorially complete library

    Thuy-Lan V Lite et al.
    A generalizable approach to understanding the logic of molecular recognition reveals the contributions of individual residues to the specificity of protein-protein interactions.
    1. Genetics and Genomics

    Integration of human pancreatic islet genomic data refines regulatory mechanisms at Type 2 Diabetes susceptibility loci

    Matthias Thurner et al.
    Human pancreatic islet high-resolution chromatin state maps generated from DNA methylation, open chromatin and ChIP-seq mark data facilitate the characterisation of regulatory mechanisms at type 2 diabetes genome-wide association study loci.
    1. Genetics and Genomics

    Extensive impact of low-frequency variants on the phenotypic landscape at population-scale

    Téo Fournier et al.
    Genome-wide association studies on a diallel yeast panel revealed the relevance of low-frequency variants on the phenotypic diversity and consequently on the missing heritability at a population-scale.
    1. Genetics and Genomics

    Science Forum: The single-cell eQTLGen consortium

    MGP van der Wijst et al.
    The single-cell eQTLGen consortium aims to pinpoint the cellular contexts in which disease-causing genetic variants affect gene expression and its regulation.

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