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Lappalainen, T.* ; Sammeth, M.* ; Friedländer, M.R.* ; 't Hoen, P.A.* ; Monlong, J.* ; Rivas, M.A.* ; Gonzàlez-Porta, M.* ; Kurbatova, N.* ; Griebel, T.* ; Ferreira, P.G.* ; Barann, M.* ; Wieland, T. ; Greger, L.* ; van Iterson, M.* ; Almlöf, J.* ; Ribeca, P.* ; Pulyakhina, I.* ; Esser, D.* ; Giger, T.* ; Tikhonov, A.* ; Sultan, M.* ; Bertier, G.* ; MacArthur, D.G.* ; Lek, M.* ; Lizano, E.* ; Buermans, H.P.* ; Padioleau, I.* ; Schwarzmayr, T. ; Karlberg, O.* ; Ongen, H.* ; Kilpinen, H.* ; Beltran, S.* ; Gut, M.* ; Kahlem, K.* ; Amstislavskiy, V.* ; Stegle, O.* ; Pirinen, M.* ; Montgomery, S.B.* ; Donnelly, P.* ; McCarthy, M.I.* ; Flicek, P.* ; Strom, T.M. ; Geuvadis Consortium (*) ; Lehrach, H.* ; Schreiber, S.* ; Sudbrak, R.* ; Carracedo, A.* ; Antonarakis, S.E.* ; Häsler, R.* ; Syvanen, A.C.* ; van Ommen, G.J.* ; Brazma, A.* ; Meitinger, T. ; Rosenstiel, P.* ; Guigo, R.* ; Gut, I.G.* ; Estivill, X.* ; Dermitzakis, E.T.*

Transcriptome and genome sequencing uncovers functional variation in humans.

Nature 501, 506-511 (2013)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Human Gene-expression ; Population ; Landscape ; Variants ; Qtls
ISSN (print) / ISBN 0028-0836
e-ISSN 1476-4687
Zeitschrift Nature
Quellenangaben Band: 501, Heft: 7468, Seiten: 506-511 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)