Visualitza per autoria "Genotype-Tissue Expression (GTEx) Consortium"

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  • Genetic effects on gene expression across human tissues
    Aguet, François; Guigó Serra, Roderic; Montgomery, Stephen B.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue ...
  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
    Cummings, Beryl B.; Marshall, Jame L.; Tukiainen, Taru; Lek, Monkol; Donkervoort, Sandra; Foley, A. Reghan; Bolduc, Veronique; Waddell, Leigh B.; Sandaradura, Sarah A.; O'Grady, Gina L.; Estrella, Elicia; Reddy, Hemakumar M.; Zhao, Fengmei; Weisburd, Ben; Karczewski, Konrad J.; O'Donnell-Luria, Anne H.; Birnbaum, Daniel; Sarkozy, Anna; Hu, Ying; Gonorazky, Hernan; Claeys, Kristi; Joshi, Adam Bournazos; Oates, Emily C.; Ghaoui, Roula; Davis, Mark R.; Laing, Nigel G.; Topf, Ana; Genotype-Tissue Expression (GTEx) Consortium; Kang, Peter B.; Beggs, Alan H.; North, Kathryn N.; Straub, Volker; Dowling, James J.; Muntoni, Francesco; Clarke, Nigel F.; Cooper, Sandra T.; Bönnemann, Carsten G.; Guigó Serra, Roderic (American Association for the Advancement of Science (AAAS), 2017)
    Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is ...
  • Landscape of X chromosome inactivation across human tissues
    Tukiainen, Taru; Guigó Serra, Roderic; MacArthur, Daniel G.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to ...
  • The impact of rare variation on gene expression across tissues
    Li, Xin; Guigó Serra, Roderic; Montgomery, Stephen B.; Genotype-Tissue Expression (GTEx) Consortium (Nature Publishing Group, 2017)
    Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, ...

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