Transcriptome and genome sequencing uncovers functional variation in humans

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MARC

Lappalainen, Tuuli (author)

Transcriptome and genome sequencing uncovers functional variation in humans

Article/chapterEnglish2013

Publisher, publication year, extent ...

2013-09-15
Springer Science and Business Media LLC,2013
printrdacarrier

Numbers

LIBRIS-ID:oai:DiVA.org:uu-207901
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-207901URI
https://doi.org/10.1038/nature12531DOI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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

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

Added entries (persons, corporate bodies, meetings, titles ...)

Sammeth, Michael (author)
Friedländer, Marc R (author)
't Hoen, Peter A C (author)
Monlong, Jean (author)
Rivas, Manuel A (author)
Gonzàlez-Porta, Mar (author)
Kurbatova, Natalja (author)
Griebel, Thasso (author)
Ferreira, Pedro G (author)
Barann, Matthias (author)
Wieland, Thomas (author)
Greger, Liliana (author)
van Iterson, Maarten (author)
Almlöf, JonasUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)jonca820 (author)
Ribeca, Paolo (author)
Pulyakhina, Irina (author)
Esser, Daniela (author)
Giger, Thomas (author)
Tikhonov, Andrew (author)
Sultan, Marc (author)
Bertier, Gabrielle (author)
Macarthur, Daniel G (author)
Lek, Monkol (author)
Lizano, Esther (author)
Buermans, Henk P J (author)
Padioleau, Ismael (author)
Schwarzmayr, Thomas (author)
Karlberg, OlofUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)oka21721 (author)
Ongen, Halit (author)
Kilpinen, Helena (author)
Beltran, Sergi (author)
Gut, Marta (author)
Kahlem, Katja (author)
Amstislavskiy, Vyacheslav (author)
Stegle, Oliver (author)
Pirinen, Matti (author)
Montgomery, Stephen B (author)
Donnelly, Peter (author)
McCarthy, Mark I (author)
Flicek, Paul (author)
Strom, Tim M (author)
Lehrach, Hans (author)
Schreiber, Stefan (author)
Sudbrak, Ralf (author)
Carracedo, Angel (author)
Antonarakis, Stylianos E (author)
Häsler, Robert (author)
Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)anncsyva (author)
van Ommen, Gert-Jan (author)
Brazma, Alvis (author)
Meitinger, Thomas (author)
Rosenstiel, Philip (author)
Guigó, Roderic (author)
Gut, Ivo G (author)
Estivill, Xavier (author)
Dermitzakis, Emmanouil T (author)
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: Lappalainen, Tuu ...; Sammeth, Michael; Friedländer, Mar ...; 't Hoen, Peter A ...; Monlong, Jean; Rivas, Manuel A; show more...; 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 ...; show less...

About the subject

NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Genetics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

NATURAL SCIENCES: NATURAL SCIENCES; and Biological Scien ...; and Bioinformatics a ...

Articles in the publication: Nature

By the university: Uppsala University

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