Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

doi:10.1126/science.1261877

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Article

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Science (New York, N.Y.) - 8 May 2015

Rivas Manuel A, Pirinen Matti, Conrad Donald F, Lek Monkol, Tsang Emily K, Karczewski Konrad J, Maller Julian B, Kukurba Kimberly R, DeLuca David S, Fromer Menachem, Ferreira Pedro G, Smith Kevin S, Zhang Rui, Zhao Fengmei, Banks Eric, Poplin Ryan, Ruderfer Douglas M, Purcell Shaun M, Tukiainen Taru, Minikel Eric V, Stenson Peter D, Cooper David N, Huang Katharine H, Sullivan Timothy J, Nedzel Jared, Bustamante Carlos D, Li Jin Billy, Daly Mark J, Guigo Roderic, Donnelly Peter, Ardlie Kristin, Sammeth Michael, Dermitzakis Emmanouil T, McCarthy Mark I, Montgomery Stephen B, Lappalainen Tuuli, MacArthur Daniel G

Abstract excerpt

Accurate prediction of the functional effect of genetic variation is critical for clinical genome interpretation. We systematically characterized the transcriptome effects of protein-truncating variants, a class of variants expected to have profound effects on gene function, using data from the Genotype-Tissue Expression (GTEx) and Geuvadis projects. We quantitated tissue-specific and positional effects on...

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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