| Autor: |
Irina Pulyakhina, Stephen B. Montgomery, Xavier Estivill, Katja Kahlem, Gabrielle Bertier, Angel Carracedo, Matti Pirinen, Peter Donnelly, Stylianos E. Antonarakis, Hans Lehrach, Thomas Meitinger, Olof Karlberg, Marc R. Friedländer, Michael Sammeth, Stefan Schreiber, Gert-Jan B. van Ommen, Andrew Tikhonov, Helena Kilpinen, Thomas Giger, Manuel A. Rivas, Pedro G. Ferreira, Ralf Sudbrak, Daniela Esser, Robert Häsler, Roderic Guigó, Oliver Stegle, Thomas Wieland, Ann-Christine Syvänen, Maarten van Iterson, Tuuli Lappalainen, Jean Monlong, Philip Rosenstiel, Daniel G. MacArthur, Sergi Beltran, Monkol Lek, Henk P. J. Buermans, Marta Gut, Peter A C 't Hoen, Emmanouil T. Dermitzakis, Natalja Kurbatova, Liliana Greger, Thasso Griebel, Paolo Ribeca, Tim M. Strom, Marc Sultan, Vyacheslav Amstislavskiy, Thomas Schwarzmayr, Matthias Barann, Alvis Brazma, Halit Ongen, Jonas Carlsson Almlöf, Ivo Gut, Paul Flicek, Esther Lizano, Mark I. McCarthy, Mar Gonzàlez-Porta, Ismael Padioleau |
| Jazyk: |
angličtina |
| Rok vydání: |
2013 |
| Předmět: |
|
| Zdroj: |
Nature, Vol. 501, No 7468 (2013) pp. 506-11
Nature; Vol 501
Nature
Nature, 501(7468), 506-511 |
| ISSN: |
0028-0836 |
| Popis: |
Genome sequencing projects are discovering millions of genetic variants in humans, and interpretation of their functional effects is essential for understanding the genetic basis of variation in human traits. Here we report sequencing and deep analysis of messenger RNA and microRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project - the first uniformly processed high-throughput RNA-sequencing data from multiple human populations with high-quality genome sequences. We discover extremely widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent. Our characterization of causal regulatory variation sheds light on the cellular mechanisms of regulatory and loss-of-function variation, and allows us to infer putative causal variants for dozens of disease-associated loci. Altogether, this study provides a deep understanding of the cellular mechanisms of transcriptome variation and of the landscape of functional variants in the human genome. © 2013 Macmillan Publishers Limited. All rights reserved. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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