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Showing 1–13 of 13 results
Advanced filters: Author: Kevin Linke Clear advanced filters

  • Samples of different body regions from hundreds of human donors are used to study how genetic variation influences gene expression levels in 44 disease-relevant tissues.

    • François Aguet
    • Andrew A. Brown
    • Jingchun Zhu
    ResearchOpen Access
    Nature
    Volume: 550, P: 204-213

  • Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variation on human phenotypes in 44 GTEx tissues and >100 phenotypes.

    • Alvaro N. Barbeira
    • Scott P. Dickinson
    • Hae Kyung Im
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-20

  • Using the GTEx data and others, a comprehensive analysis of adenosine-to-inosine RNA editing in mammals is presented; targets of the various ADAR enzymes are identified, as are several potential regulators of editing, such as AIMP2.

    • Meng How Tan
    • Qin Li
    • Jin Billy Li
    Research
    Nature
    Volume: 550, P: 249-254

  • Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

    • Taru Tukiainen
    • Alexandra-Chloé Villani
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature
    Volume: 550, P: 244-248

  • The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

    • Xin Li
    • Yungil Kim
    • Stephen B. Montgomery
    ResearchOpen Access
    Nature
    Volume: 550, P: 239-243

  • In an inter-laboratory study, the authors compare the accuracy and performance of three optical density calibration protocols (colloidal silica, serial dilution of silica microspheres, and colony-forming unit (CFU) assay). They demonstrate that serial dilution of silica microspheres is the best of these tested protocols, allowing precise and robust calibration that is easily assessed for quality control and can also evaluate the effective linear range of an instrument.

    • Jacob Beal
    • Natalie G. Farny
    • Jiajie Zhou
    ResearchOpen Access
    Communications Biology
    Volume: 3, P: 1-29

  • To address the key physiological characteristics related to choroidal drug reactions and its immunology, Cipriano et al. developed a human immunocompetent choroidal in vitro model that mimics the tissue vascularization, pigmentation and immune response in the presence of circulating immune cells. This could help building a toolbox of in vitro models recapitulating aspects of the immune system to study immuneoncology.

    • Madalena Cipriano
    • Katharina Schlünder
    • Peter Loskill
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-13

  • Genetic variants have been associated with myriad molecular phenotypes that provide new insight into the range of mechanisms underlying genetic traits and diseases. Identifying any particular genetic variant's cascade of effects, from molecule to individual, requires assaying multiple layers of molecular complexity. We introduce the Enhancing GTEx (eGTEx) project that extends the GTEx project to combine gene expression with additional intermediate molecular measurements on the same tissues to provide a resource for studying how genetic differences cascade through molecular phenotypes to impact human health.

    • Barbara E Stranger
    • Lori E Brigham
    • Stephen B Montgomery
    Comments & Opinion
    Nature Genetics
    Volume: 49, P: 1664-1670