作者
Tuuli Lappalainen, Michael Sammeth, Marc R Friedländer, Peter AC ‘t Hoen, Jean Monlong, Manuel A Rivas, Mar Gonzalez-Porta, Natalja Kurbatova, Thasso Griebel, Pedro G Ferreira, Matthias Barann, Thomas Wieland, Liliana Greger, Maarten van Iterson, Jonas Almlöf, Paolo Ribeca, Irina Pulyakhina, Daniela Esser, Thomas Giger, Andrew Tikhonov, Marc Sultan, Gabrielle Bertier, Daniel G MacArthur, Monkol Lek, Esther Lizano, Henk PJ Buermans, Ismael Padioleau, Thomas Schwarzmayr, Olof Karlberg, Halit Ongen, Helena Kilpinen, Sergi Beltran, Marta Gut, Katja Kahlem, Vyacheslav Amstislavskiy, Oliver Stegle, Matti Pirinen, Stephen B Montgomery, Peter Donnelly, Mark I McCarthy, Paul Flicek, Tim M Strom, Geuvadis Consortium, Hans Lehrach, Stefan Schreiber, Ralf Sudbrak, Angel Carracedo, Stylianos E Antonarakis, Robert Häsler, Ann-Christine Syvänen, Gert-Jan van Ommen, Alvis Brazma, Thomas Meitinger, Philip Rosenstiel, Roderic Guigo, Ivo G Gut, Xavier Estivill, Emmanouil T Dermitzakis
发表日期
2013/9/26
期刊
Nature
卷号
501
期号
7468
页码范围
506-511
出版商
Nature Publishing Group UK
简介
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 …
学术搜索中的文章
T Lappalainen, M Sammeth, MR Friedländer… - Nature, 2013