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
Science. 2015 348 (6235): 666-9

PMID: 25954003 · PMCID: PMC4537935 · DOI:10.1126/science.1261877

MeSH Terms (12)

Alternative Splicing Gene Expression Profiling Gene Expression Regulation Gene Silencing Genetic Variation Genome, Human Heterozygote Humans Nonsense Mediated mRNA Decay Phenotype Proteins Transcriptome

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