Understanding mechanisms underlying human gene expression variation with RNA sequencing

Joseph K. Pickrell (), John C. Marioni, Athma A. Pai, Jacob F. Degner, Barbara E. Engelhardt, Everlyne Nkadori, Jean-Baptiste Veyrieras, Matthew Stephens, Yoav Gilad () and Jonathan K. Pritchard ()
Additional contact information
Joseph K. Pickrell: Department of Human Genetics,
John C. Marioni: Department of Human Genetics,
Athma A. Pai: Department of Human Genetics,
Jacob F. Degner: Department of Human Genetics,
Barbara E. Engelhardt: Department of Computer Science,
Everlyne Nkadori: Department of Human Genetics,
Jean-Baptiste Veyrieras: Department of Human Genetics,
Matthew Stephens: Department of Human Genetics,
Yoav Gilad: Department of Human Genetics,
Jonathan K. Pritchard: Department of Human Genetics,

Nature, 2010, vol. 464, issue 7289, 768-772

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/nature08872

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