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Transcriptome and genome sequencing uncovers functional variation in humans.
Nature. 2013 Sep 26;501(7468):506-11. doi: 10.1038/nature12531. Epub 2013 Sep 15.
Nature. 2013.
PMID: 24037378
Free PMC article.
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories.
't Hoen PA, Friedländer MR, Almlöf J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brännvall M; GEUVADIS Consortium; den Dunnen JT, van Ommen GJ, Gut IG, Guigó R, Estivill X, Syvänen AC, Dermitzakis ET, Lappalainen T.
't Hoen PA, et al.
Nat Biotechnol. 2013 Nov;31(11):1015-22. doi: 10.1038/nbt.2702. Epub 2013 Sep 15.
Nat Biotechnol. 2013.
PMID: 24037425
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Tandem RNA chimeras contribute to transcriptome diversity in human population and are associated with intronic genetic variants.
Greger L, Su J, Rung J, Ferreira PG; Geuvadis consortium; Lappalainen T, Dermitzakis ET, Brazma A.
Greger L, et al.
PLoS One. 2014 Aug 18;9(8):e104567. doi: 10.1371/journal.pone.0104567. eCollection 2014.
PLoS One. 2014.
PMID: 25133550
Free PMC article.
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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG.
Rivas MA, et al.
Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877.
Science. 2015.
PMID: 25954003
Free PMC article.
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