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Human genomics. The human transcriptome across tissues and individuals.

ABSTRACT: Transcriptional regulation and posttranscriptional processing underlie many cellular and organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue Expression (GTEx) project to investigate the patterns of transcriptome variation across individuals and tissues. Tissues exhibit characteristic transcriptional signatures that show stability in postmortem samples. These signatures are dominated by a relatively small number of genes—which is most clearly seen in blood—though few are exclusive to a particular tissue and vary more across tissues than individuals. Genes exhibiting high interindividual expression variation include disease candidates associated with sex, ethnicity, and age. Primary transcription is the major driver of cellular specificity, with splicing playing mostly a complementary role; except for the brain, which exhibits a more divergent splicing program. Variation in splicing, despite its stochasticity, may play in contrast a comparatively greater role in defining individual phenotypes.

SUBMITTER: Mele M

PROVIDER: S-EPMC4547472 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

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Human genomics. The human transcriptome across tissues and individuals.

Melé Marta M Ferreira Pedro G PG Reverter Ferran F DeLuca David S DS Monlong Jean J Sammeth Michael M Young Taylor R TR Goldmann Jakob M JM Pervouchine Dmitri D DD Sullivan Timothy J TJ Johnson Rory R Segrè Ayellet V AV Djebali Sarah S Niarchou Anastasia A Wright Fred A FA Lappalainen Tuuli T Calvo Miquel M Getz Gad G Dermitzakis Emmanouil T ET Ardlie Kristin G KG Guigó Roderic R

Science (New York, N.Y.) 20150501 6235

Transcriptional regulation and posttranscriptional processing underlie many cellular and organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue Expression (GTEx) project to investigate the patterns of transcriptome variation across individuals and tissues. Tissues exhibit characteristic transcriptional signatures that show stability in postmortem samples. These signatures are dominated by a relatively small number of genes—which is most clearly seen in blood—though few are ...[more]

PMID: 25954002

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Dataset Information

Human genomics. The human transcriptome across tissues and individuals.

Publications

Human genomics. The human transcriptome across tissues and individuals.

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