117 results found
    1. Human Biology and Medicine

    Germline burden of rare damaging variants negatively affects human healthspan and lifespan

    Anastasia V Shindyapina et al.
    Rare highly damaging mutations that are present in most human genomes decrease lifespan and are associated with an earlier onset of chronic diseases.
    1. Cancer Biology
    2. Computational and Systems Biology

    Integrative analysis of large-scale loss-of-function screens identifies robust cancer-associated genetic interactions

    Christopher J Lord et al.
    Computational approach to identify reproducible genetic interactions in cancer reveals that they are enriched among protein–protein interaction pairs.
    1. Neuroscience

    Epigenetic inheritance of circadian period in clonal cells

    Yan Li et al.
    Global changes in gene expression associated with differential DNA methylation underlie epigenetic inheritance of circadian periodicity in cells.
    1. Cancer Biology
    2. Genetics and Genomics

    Novel insights into breast cancer copy number genetic heterogeneity revealed by single-cell genome sequencing

    Timour Baslan et al.
    Copy number alteration heterogeneity exists in many shapes and forms in breast cancer genomes and single-cell genomics is a powerful tool to further our understanding of its nature and significance.
    1. Genetics and Genomics

    Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

    Tracy L McGregor et al.
    Lifelong HAO1 knockout was safe and without clinical phenotype in an identified healthy woman, de-risking a rare disease therapeutic approach through the power of naturally occurring human genetic variation.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Measuring the distribution of fitness effects in somatic evolution by combining clonal dynamics with dN/dS ratios

    Marc J Williams et al.
    Measurement of the distribution of fitness effects of new mutations arising in human oesophagus and skin, via new mathematical theory linking dn/ds values and fitness coefficients.
    1. Neuroscience

    Identification of slit3 as a locus affecting nicotine preference in zebrafish and human smoking behaviour

    Judit García-González et al.
    Zebrafish studies are able to predict loci and biological pathways affecting human behaviour, paving the way to better understanding of the biological underpinnings of psychiatric disease.
    1. Plant Biology

    A roadmap for gene functional characterisation in crops with large genomes: Lessons from polyploid wheat

    Nikolai M Adamski et al.
    The development of genomic tools and publicly available resources in polyploid wheat provides a framework to understand biologically important traits in crops with large genomes.
    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. Cell Biology
    2. Human Biology and Medicine

    Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

    Caroline Lekszas et al.
    The first human TANGO1-associated syndromal disease manifests as impaired collagen secretion, highlighting the importance of TANGO1 in human pathophysiology.

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