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  Transcriptome and genome sequencing uncovers functional variation in humans

Lappalainen, T., Sammeth, M., Friedlander, M. R., 't Hoen, P. A. C., Monlong, J., Rivas, M. A., et al. (2013). Transcriptome and genome sequencing uncovers functional variation in humans. Nature, 501(7468), 506-511. doi:Doi 10.1038/Nature12531.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-02BF-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-02C2-2
Genre: Journal Article

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Lappalainen.pdf (Publisher version), 659KB
 
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2013
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2013 Macmillan Publishers Limited. All rights reserved.
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 Creators:
Lappalainen, T., Author
Sammeth, M., Author
Friedlander, M. R., Author
't Hoen, P. A. C., Author
Monlong, J., Author
Rivas, M. A., Author
Gonzalez-Porta, M., Author
Kurbatova, N., Author
Griebel, T., Author
Ferreira, P. G., Author
Barann, M., Author
Wieland, T., Author
Greger, L., Author
van Iterson, M., Author
Almlof, J., Author
Ribeca, P., Author
Pulyakhina, I., Author
Esser, D., Author
Giger, T., Author
Tikhonov, A., Author
Sultan, M.1, Author              Bertier, G., AuthorMacArthur, D. G., AuthorLek, M., AuthorLizano, E., AuthorBuermans, H. P. J., AuthorPadioleau, I., AuthorSchwarzmayr, T., AuthorKarlberg, O., AuthorOngen, H., AuthorKilpinen, H., AuthorBeltran, S., AuthorGut, M., AuthorKahlem, K., AuthorAmstislavskiy, V.1, Author              Stegle, O., AuthorPirinen, M., AuthorMontgomery, S. B., AuthorDonnelly, P., AuthorMcCarthy, M. I., AuthorFlicek, P., AuthorStrom, T. M., AuthorLehrach, H.2, Author              Schreiber, S., AuthorSudbrak, Ralf2, Author              Carracedo, A., AuthorAntonarakis, S. E., AuthorHaesler, R., AuthorSyvaenen, A. C., AuthorVan Ommen, G. J., AuthorBrazma, A., AuthorMeitinger, T., AuthorRosenstiel, P., AuthorGuigo, R., AuthorGut, I. G., AuthorEstivill, X., AuthorDermitzakis, E. T., AuthorConsortium, Geuvadis, Author more..
Affiliations:
1Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479652              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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Free keywords: human gene-expression population landscape variants qtls
 Abstract: 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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Language(s): eng - English
 Dates: 2013-02-072013-08-052013-09-152013
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: Other: WOS:000324826300049
DOI: Doi 10.1038/Nature12531
ISSN: 0028-0836
URI: ://WOS:000324826300049http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3918453/pdf/nihms512974.pdf
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Title: Nature
Source Genre: Journal
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Publ. Info: London : Nature Publishing Group
Pages: 6 Volume / Issue: 501 (7468) Sequence Number: - Start / End Page: 506 - 511 Identifier: ISSN: 0028-0836
CoNE: https://pure.mpg.de/cone/journals/resource/954925427238