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Showing 1–8 of 8 results
Advanced filters: Author: Alisa Kane 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

  • Using data from a single time point, passenger-approximated clonal expansion rate (PACER) estimates the fitness of common driver mutations that lead to clonal haematopoiesis and identifies TCL1A activation as a mediator of clonal expansion.

    • Joshua S. Weinstock
    • Jayakrishnan Gopakumar
    • Siddhartha Jaiswal
    Research
    Nature
    Volume: 616, P: 755-763

  • 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