Population- and individual-specific regulatory variation in Sardinia

Francesco Cucca, Stephen Montgomery and colleagues identify regulatory variants that influence gene expression and splicing using whole-genome and transcriptome sequence data from 624 Sardinians. They find a high frequency of splicing and expression quantitative trait loci near genes involved in mal...

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Vydáno v:	Nature genetics Ročník 49; číslo 5; s. 700 - 707
Hlavní autoři:	Pala, Mauro, Zappala, Zachary, Marongiu, Mara, Li, Xin, Davis, Joe R, Cusano, Roberto, Crobu, Francesca, Kukurba, Kimberly R, Gloudemans, Michael J, Reinier, Frederic, Berutti, Riccardo, Piras, Maria G, Mulas, Antonella, Zoledziewska, Magdalena, Marongiu, Michele, Sorokin, Elena P, Hess, Gaelen T, Smith, Kevin S, Busonero, Fabio, Maschio, Andrea, Steri, Maristella, Sidore, Carlo, Sanna, Serena, Fiorillo, Edoardo, Bassik, Michael C, Sawcer, Stephen J, Battle, Alexis, Novembre, John, Jones, Chris, Angius, Andrea, Abecasis, Gonçalo R, Schlessinger, David, Cucca, Francesco, Montgomery, Stephen B
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	New York Nature Publishing Group US 01.05.2017 Nature Publishing Group
Témata:	38 38/91 45 45/23 45/43 631/208/191/2018 631/208/205/2138 631/208/212/2019 631/208/457 Agriculture Alternative Splicing Animal Genetics and Genomics Bioinformatics Biomedicine Blood Cancer Research Chromosome Mapping Epidemiology Family Health Female Gene expression Gene Expression Profiling - methods Gene Function Gene mapping Genes Genetic Predisposition to Disease - genetics Genetic Variation Genetics Genetics, Population Genome-Wide Association Study - methods Genomes Genotype Human Genetics Humans Italy Male Multiple sclerosis Outliers (statistics) Polymorphism, Single Nucleotide Population Population genetics Proteins Quantitative trait loci Quantitative Trait Loci - genetics Splicing Studies Transcription Initiation Site United States > US California
ISSN:	1061-4036, 1546-1718, 1546-1718
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