Transcriptome genetics using second generation sequencing in a Caucasian population

Stephen B. Montgomery (), Micha Sammeth, Maria Gutierrez-Arcelus, Radoslaw P. Lach, Catherine Ingle, James Nisbett, Roderic Guigo and Emmanouil T. Dermitzakis ()
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Stephen B. Montgomery: University of Geneva Medical School
Micha Sammeth: Center for Genomic Regulation, University Pompeu Fabra, Barcelona, Catalonia, 08003 Spain
Maria Gutierrez-Arcelus: University of Geneva Medical School
Radoslaw P. Lach: Wellcome Trust Sanger Institute
Catherine Ingle: Wellcome Trust Sanger Institute
James Nisbett: Wellcome Trust Sanger Institute
Roderic Guigo: Center for Genomic Regulation, University Pompeu Fabra, Barcelona, Catalonia, 08003 Spain
Emmanouil T. Dermitzakis: University of Geneva Medical School

Nature, 2010, vol. 464, issue 7289, 773-777

Abstract: RNA sequencing unlocks key to gene expression There is currently much interest in the understanding of genetic mechanisms that underlie variation at the gene expression level. Two groups reporting in this issue of Nature use RNA sequencing to study global gene expression in two contrasting populations. Pickrell et al. sequenced RNA from 69 lymphoblastoid cell lines derived from unrelated Nigerian individuals who have been extensively genotyped as part of the HapMap Project. By pooling data from all the individuals it was possible to identify many genetic determinants of variation in gene expression. Montgomery et al. characterize the mRNA fraction of RNA isolated from lymphoblastoid cell lines derived from 63 HapMap individuals of Caucasian origin. They obtain a fine-scale view of the transcriptome and identify genetic variants that affect alternative splicing.

Date: 2010
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DOI: 10.1038/nature08903

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