3,188 results found
    1. Genetics and Genomics
    2. Human Biology and Medicine

    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. Genetics and Genomics

    Genetic Variation: Searching for solutions to the missing heritability problem

    Luisa F Pallares
    Rare genetic variants in yeast explain a large amount of phenotypic variation in a complex trait like growth.
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    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. 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. Computational and Systems Biology
    2. Chromosomes and Gene Expression

    Combinatorial bZIP dimers display complex DNA-binding specificity landscapes

    José A Rodríguez-Martínez et al.
    Cognate site identification uncovers the impact of combinatorial dimerization in specifying new DNA binding sites for human bZIP transcription factors and comprehensive specificity landscapes predict the impact of SNPs on bZIP binding at previously unannotated regulatory loci.
    1. Human Biology and Medicine

    Aging: Searching for the genetic key to a long and healthy life

    Joris Deelen
    A study of over 40,000 individuals suggests that carrying a small number of ultra-rare genetic variants is associated with a longer lifespan.
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    1. Genetics and Genomics

    Rare variants contribute disproportionately to quantitative trait variation in yeast

    Joshua S Bloom et al.
    Rare, evolutionarily recent variants have larger effect sizes and are more likely to decrease fitness, providing evidence that quantitative traits in yeast have evolved under purifying selection.
    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.
    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

    Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    Aline Jelenkovic et al.
    Genetic variance of adult human height shows a generally increasing trend across the birth-year cohorts but heritability estimates do not present any clear pattern of secular changes over a century.

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