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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. Among authors: guigo r. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 Free PMC article.
EGASP: the human ENCODE Genome Annotation Assessment Project.
Guigó R, Flicek P, Abril JF, Reymond A, Lagarde J, Denoeud F, Antonarakis S, Ashburner M, Bajic VB, Birney E, Castelo R, Eyras E, Ucla C, Gingeras TR, Harrow J, Hubbard T, Lewis SE, Reese MG. Guigó R, et al. Genome Biol. 2006;7 Suppl 1(Suppl 1):S2.1-31. doi: 10.1186/gb-2006-7-s1-s2. Epub 2006 Aug 7. Genome Biol. 2006. PMID: 16925836 Free PMC article. Review.
Identifying protein-coding genes in genomic sequences.
Harrow J, Nagy A, Reymond A, Alioto T, Patthy L, Antonarakis SE, Guigó R. Harrow J, et al. Among authors: guigo r. Genome Biol. 2009;10(1):201. doi: 10.1186/gb-2009-10-1-201. Epub 2009 Jan 30. Genome Biol. 2009. PMID: 19226436 Free PMC article. Review.
298 results