Sökning: WFRF:(Schreiber Daniel) > (2010-2014) > Transcriptome and g...
Fältnamn | Indikatorer | Metadata |
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000 | 05223naa a2201021 4500 | |
001 | oai:DiVA.org:uu-207901 | |
003 | SwePub | |
008 | 130920s2013 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2079012 URI |
024 | 7 | a https://doi.org/10.1038/nature125312 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Lappalainen, Tuuli4 aut |
245 | 1 0 | a Transcriptome and genome sequencing uncovers functional variation in humans |
264 | c 2013-09-15 | |
264 | 1 | b Springer Science and Business Media LLC,c 2013 |
338 | a print2 rdacarrier | |
520 | a 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. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Bioinformatik och systembiologi0 (SwePub)106102 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Bioinformatics and Systems Biology0 (SwePub)106102 hsv//eng |
700 | 1 | a Sammeth, Michael4 aut |
700 | 1 | a Friedländer, Marc R4 aut |
700 | 1 | a 't Hoen, Peter A C4 aut |
700 | 1 | a Monlong, Jean4 aut |
700 | 1 | a Rivas, Manuel A4 aut |
700 | 1 | a Gonzàlez-Porta, Mar4 aut |
700 | 1 | a Kurbatova, Natalja4 aut |
700 | 1 | a Griebel, Thasso4 aut |
700 | 1 | a Ferreira, Pedro G4 aut |
700 | 1 | a Barann, Matthias4 aut |
700 | 1 | a Wieland, Thomas4 aut |
700 | 1 | a Greger, Liliana4 aut |
700 | 1 | a van Iterson, Maarten4 aut |
700 | 1 | a Almlöf, Jonasu Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)jonca820 |
700 | 1 | a Ribeca, Paolo4 aut |
700 | 1 | a Pulyakhina, Irina4 aut |
700 | 1 | a Esser, Daniela4 aut |
700 | 1 | a Giger, Thomas4 aut |
700 | 1 | a Tikhonov, Andrew4 aut |
700 | 1 | a Sultan, Marc4 aut |
700 | 1 | a Bertier, Gabrielle4 aut |
700 | 1 | a Macarthur, Daniel G4 aut |
700 | 1 | a Lek, Monkol4 aut |
700 | 1 | a Lizano, Esther4 aut |
700 | 1 | a Buermans, Henk P J4 aut |
700 | 1 | a Padioleau, Ismael4 aut |
700 | 1 | a Schwarzmayr, Thomas4 aut |
700 | 1 | a Karlberg, Olofu Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)oka21721 |
700 | 1 | a Ongen, Halit4 aut |
700 | 1 | a Kilpinen, Helena4 aut |
700 | 1 | a Beltran, Sergi4 aut |
700 | 1 | a Gut, Marta4 aut |
700 | 1 | a Kahlem, Katja4 aut |
700 | 1 | a Amstislavskiy, Vyacheslav4 aut |
700 | 1 | a Stegle, Oliver4 aut |
700 | 1 | a Pirinen, Matti4 aut |
700 | 1 | a Montgomery, Stephen B4 aut |
700 | 1 | a Donnelly, Peter4 aut |
700 | 1 | a McCarthy, Mark I4 aut |
700 | 1 | a Flicek, Paul4 aut |
700 | 1 | a Strom, Tim M4 aut |
700 | 1 | a Lehrach, Hans4 aut |
700 | 1 | a Schreiber, Stefan4 aut |
700 | 1 | a Sudbrak, Ralf4 aut |
700 | 1 | a Carracedo, Angel4 aut |
700 | 1 | a Antonarakis, Stylianos E4 aut |
700 | 1 | a Häsler, Robert4 aut |
700 | 1 | a Syvänen, Ann-Christineu Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)anncsyva |
700 | 1 | a van Ommen, Gert-Jan4 aut |
700 | 1 | a Brazma, Alvis4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Rosenstiel, Philip4 aut |
700 | 1 | a Guigó, Roderic4 aut |
700 | 1 | a Gut, Ivo G4 aut |
700 | 1 | a Estivill, Xavier4 aut |
700 | 1 | a Dermitzakis, Emmanouil T4 aut |
710 | 2 | a Uppsala universitetb Molekylär medicin4 org |
773 | 0 | t Natured : Springer Science and Business Media LLCg 501:7468, s. 506-511q 501:7468<506-511x 0028-0836x 1476-4687 |
856 | 4 | u https://europepmc.org/articles/pmc3918453?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-207901 |
856 | 4 8 | u https://doi.org/10.1038/nature12531 |
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