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RNA-sequencing of 465 lymphoblastoid cell lines from the 1000 Genomes

ABSTRACT: 10.1038/nature12531

INSTRUMENT(S): Illumina HiSeq 2000

ORGANISM(S): Homo sapiens

SUBMITTER: Emmanouil Dermitzakis

PROVIDER: E-GEUV-1 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing.

Ferreira Pedro G PG Oti Martin M Barann Matthias M Wieland Thomas T Ezquina Suzana S Friedländer Marc R MR Rivas Manuel A MA Esteve-Codina Anna A Rosenstiel Philip P Strom Tim M TM Lappalainen Tuuli T Guigó Roderic R Sammeth Michael M

Scientific reports 20160912

Recent advances in the cost-efficiency of sequencing technologies enabled the combined DNA- and RNA-sequencing of human individuals at the population-scale, making genome-wide investigations of the inter-individual genetic impact on gene expression viable. Employing mRNA-sequencing data from the Geuvadis Project and genome sequencing data from the 1000 Genomes Project we show that the computational analysis of DNA sequences around splice sites and poly-A signals is able to explain several observ ...[more]

PMID: 27617755

Publication: 1/3

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