6,643 results found
    1. Genetics and Genomics

    Comparative genetic screens in human cells reveal new regulatory mechanisms in WNT signaling

    Andres M Lebensohn et al.
    A systematic genetic analysis comprising seven genome-wide screens in haploid human cells uncovered new regulatory mechanisms at most levels in the WNT signaling pathway.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Global donor and acceptor splicing site kinetics in human cells

    Leonhard Wachutka et al.
    Transient transcriptome sequencing and kinetic modeling suggest how the kinetics and yield of RNA splicing are encoded in the human genome.
    1. Evolutionary Biology
    2. Genetics and Genomics

    A variant-centric perspective on geographic patterns of human allele frequency variation

    Arjun Biddanda et al.
    New tools for visualizing population genetic data can provide a more direct understanding of levels of differentiation among human populations.
    1. Genetics and Genomics

    Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

    Hui Zhao et al.
    A comprehensive catalogue of somatic mutations accumulating in MMR-deficient tumors highlights their relevance in the context of human genetic evolution, for the diagnosis of microsatellite instability and the provision of targeted treatment options.
    1. Cell Biology

    Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study

    Christi T Salisbury-Ruf et al.
    An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.
    1. Evolutionary Biology

    The genetic architecture of gene expression levels in wild baboons

    Jenny Tung et al.
    RNA sequencing of individuals within a wild baboon population reveals extensive power to detect functional regulatory variation, and suggests that the set of genes affected by such variation may be conserved across species.
    1. Genetics and Genomics

    Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

    Satish K Nandakumar et al.
    A gene-centric functional screen uncovers biological mechanisms underlying genome-wide association study signals for human red blood cell traits.
    1. Developmental Biology

    Building the vertebrate codex using the gene breaking protein trap library

    Noriko Ichino et al.
    The analysis of the first 1000 revertible protein trap alleles in zebrafish resulted in new functional genomic annotations and produced a panel of potential new models of human disease.
    1. Genetics and Genomics

    Integrative genomic analysis of the human immune response to influenza vaccination

    Luis M Franco et al.
    By comparing gene expression in people before and after they received the influenza vaccine, researchers were able to identify genes that contribute to differences in individual responses to vaccination.
    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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