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Transcriptome and g...
Transcriptome and genome sequencing uncovers functional variation in humans
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Lappalainen, Tuuli (author)
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Sammeth, Michael (author)
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Friedländer, Marc R (author)
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show more...
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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, Jonas (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab
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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, Olof (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab
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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-Christine (author)
- Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab
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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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show less...
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(creator_code:org_t)
- 2013-09-15
- 2013
- English.
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 501:7468, s. 506-511
- Related links:
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
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Nature
(Search for host publication in LIBRIS)
To the university's database
- 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
-
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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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Bioinformatics a ...
- Articles in the publication
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Nature
- By the university
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Uppsala University