Search: L773:0028 0836 OR L773:1476 4687
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> (2013)
> Lehrach Hans >
Transcriptome and g...
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Lappalainen, Tuuli
(author)
Transcriptome and genome sequencing uncovers functional variation in humans
- Article/chapterEnglish2013
Publisher, publication year, extent ...
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2013-09-15
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Springer Science and Business Media LLC,2013
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-207901
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-207901URI
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https://doi.org/10.1038/nature12531DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Sammeth, Michael
(author)
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Friedländer, Marc R
(author)
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't Hoen, Peter A C
(author)
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Monlong, Jean
(author)
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Rivas, Manuel A
(author)
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Gonzàlez-Porta, Mar
(author)
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Kurbatova, Natalja
(author)
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Griebel, Thasso
(author)
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Ferreira, Pedro G
(author)
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Barann, Matthias
(author)
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Wieland, Thomas
(author)
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Greger, Liliana
(author)
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van Iterson, Maarten
(author)
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Almlöf, JonasUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)jonca820
(author)
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Ribeca, Paolo
(author)
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Pulyakhina, Irina
(author)
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Esser, Daniela
(author)
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Giger, Thomas
(author)
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Tikhonov, Andrew
(author)
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Sultan, Marc
(author)
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Bertier, Gabrielle
(author)
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Macarthur, Daniel G
(author)
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Lek, Monkol
(author)
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Lizano, Esther
(author)
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Buermans, Henk P J
(author)
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Padioleau, Ismael
(author)
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Schwarzmayr, Thomas
(author)
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Karlberg, OlofUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)oka21721
(author)
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Ongen, Halit
(author)
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Kilpinen, Helena
(author)
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Beltran, Sergi
(author)
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Gut, Marta
(author)
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Kahlem, Katja
(author)
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Amstislavskiy, Vyacheslav
(author)
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Stegle, Oliver
(author)
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Pirinen, Matti
(author)
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Montgomery, Stephen B
(author)
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Donnelly, Peter
(author)
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McCarthy, Mark I
(author)
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Flicek, Paul
(author)
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Strom, Tim M
(author)
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Lehrach, Hans
(author)
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Schreiber, Stefan
(author)
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Sudbrak, Ralf
(author)
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Carracedo, Angel
(author)
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Antonarakis, Stylianos E
(author)
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Häsler, Robert
(author)
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Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)anncsyva
(author)
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van Ommen, Gert-Jan
(author)
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Brazma, Alvis
(author)
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Meitinger, Thomas
(author)
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Rosenstiel, Philip
(author)
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Guigó, Roderic
(author)
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Gut, Ivo G
(author)
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Estivill, Xavier
(author)
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Dermitzakis, Emmanouil T
(author)
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Uppsala universitetMolekylär medicin
(creator_code:org_t)
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In:Nature: Springer Science and Business Media LLC501:7468, s. 506-5110028-08361476-4687
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- By the author/editor
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Lappalainen, Tuu ...
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Sammeth, Michael
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Friedländer, Mar ...
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't Hoen, Peter A ...
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Monlong, Jean
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Rivas, Manuel A
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show more...
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Gonzàlez-Porta, ...
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Kurbatova, Natal ...
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Griebel, Thasso
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Ferreira, Pedro ...
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Barann, Matthias
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Wieland, Thomas
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Greger, Liliana
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van Iterson, Maa ...
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Almlöf, Jonas
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Ribeca, Paolo
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Pulyakhina, Irin ...
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Esser, Daniela
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Giger, Thomas
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Tikhonov, Andrew
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Sultan, Marc
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Bertier, Gabriel ...
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Macarthur, Danie ...
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Lek, Monkol
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Lizano, Esther
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Buermans, Henk P ...
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Padioleau, Ismae ...
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Schwarzmayr, Tho ...
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Karlberg, Olof
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Ongen, Halit
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Kilpinen, Helena
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Beltran, Sergi
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Gut, Marta
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Kahlem, Katja
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Amstislavskiy, V ...
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Stegle, Oliver
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Pirinen, Matti
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Montgomery, Step ...
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Donnelly, Peter
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McCarthy, Mark I
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Flicek, Paul
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Strom, Tim M
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Lehrach, Hans
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Schreiber, Stefa ...
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Sudbrak, Ralf
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Carracedo, Angel
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Antonarakis, Sty ...
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Häsler, Robert
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Syvänen, Ann-Chr ...
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van Ommen, Gert- ...
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Brazma, Alvis
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Meitinger, Thoma ...
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Rosenstiel, Phil ...
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Guigó, Roderic
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Gut, Ivo G
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Estivill, Xavier
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Dermitzakis, Emm ...
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Uppsala University