Transcriptome and genome sequencing uncovers functional variation in humans

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Lappalainen, Tuu ...; Sammeth, Michael; Friedländer, Mar ...; 't Hoen, Peter A ...; Monlong, Jean; Rivas, Manuel A; visa fler...; Gonzàlez-Porta, ...; Kurbatova, Natal ...; Griebel, Thasso; Ferreira, Pedro ...; Barann, Matthias; Wieland, Thomas; Greger, Liliana; van Iterson, Maa ...; Almlöf, Jonas; Ribeca, Paolo; Pulyakhina, Irin ...; Esser, Daniela; Giger, Thomas; Tikhonov, Andrew; Sultan, Marc; Bertier, Gabriel ...; Macarthur, Danie ...; Lek, Monkol; Lizano, Esther; Buermans, Henk P ...; Padioleau, Ismae ...; Schwarzmayr, Tho ...; Karlberg, Olof; Ongen, Halit; Kilpinen, Helena; Beltran, Sergi; Gut, Marta; Kahlem, Katja; Amstislavskiy, V ...; Stegle, Oliver; Pirinen, Matti; Montgomery, Step ...; Donnelly, Peter; McCarthy, Mark I; Flicek, Paul; Strom, Tim M; Lehrach, Hans; Schreiber, Stefa ...; Sudbrak, Ralf; Carracedo, Angel; Antonarakis, Sty ...; Häsler, Robert; Syvänen, Ann-Chr ...; van Ommen, Gert- ...; Brazma, Alvis; Meitinger, Thoma ...; Rosenstiel, Phil ...; Guigó, Roderic; Gut, Ivo G; Estivill, Xavier; Dermitzakis, Emm ...; visa färre...

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