2,747 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. 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. 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. 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.
    1. Computational and Systems Biology
    2. Microbiology and Infectious Disease

    Phenotype inference in an Escherichia coli strain panel

    Marco Galardini et al.
    The mechanistic impact of genetic variants can be combined with previous knowledge on gene function to deliver conditional growth predictions and pave the way for personalized genetic interventions.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Fine-mapping cis-regulatory variants in diverse human populations

    Ashley Tehranchi et al.
    A map of the genetic variants affecting chromatin accessibility in 1000 individuals from 10 diverse populations reveals how cis-regulatory variants impact transcription and disease.
    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. 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.

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