Transcriptome and genome sequencing uncovers functional variation in humans.
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ABSTRACT:
SUBMITTER: Lappalainen T
PROVIDER: S-EPMC3918453 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
Publications
Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen Tuuli T Sammeth Michael M Friedländer Marc R MR 't Hoen Peter A C PA Monlong Jean J Rivas Manuel A MA Gonzàlez-Porta Mar M Kurbatova Natalja N Griebel Thasso T Ferreira Pedro G PG Barann Matthias M Wieland Thomas T Greger Liliana L van Iterson Maarten M Almlöf Jonas J Ribeca Paolo P Pulyakhina Irina I Esser Daniela D Giger Thomas T Tikhonov Andrew A Sultan Marc M Bertier Gabrielle G MacArthur Daniel G DG Lek Monkol M Lizano Esther E Buermans Henk P J HP Padioleau Ismael I Schwarzmayr Thomas T Karlberg Olof O Ongen Halit H Kilpinen Helena H Beltran Sergi S Gut Marta M Kahlem Katja K Amstislavskiy Vyacheslav V Stegle Oliver O Pirinen Matti M Montgomery Stephen B SB Donnelly Peter P McCarthy Mark I MI Flicek Paul P Strom Tim M TM Lehrach Hans H Schreiber Stefan S Sudbrak Ralf R Carracedo Angel A Antonarakis Stylianos E SE Häsler Robert R Syvänen Ann-Christine AC van Ommen Gert-Jan GJ Brazma Alvis A Meitinger Thomas T Rosenstiel Philip P Guigó Roderic R Gut Ivo G IG Estivill Xavier X Dermitzakis Emmanouil T ET
Nature 20130915 7468
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 ...[more]
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