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Transcriptome variation in human tissues revealed by long-read sequencing.
Glinos DA, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur DG, Lappalainen T, Cummings BB. Glinos DA, et al. Among authors: hoffman p. Nature. 2022 Aug;608(7922):353-359. doi: 10.1038/s41586-022-05035-y. Epub 2022 Aug 3. Nature. 2022. PMID: 35922509 Free PMC article.
Genetic regulatory variation in populations informs transcriptome analysis in rare disease.
Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang Z, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T. Mohammadi P, et al. Among authors: hoffman p. Science. 2019 Oct 18;366(6463):351-356. doi: 10.1126/science.aay0256. Epub 2019 Oct 10. Science. 2019. PMID: 31601707 Free PMC article.
The impact of sex on gene expression across human tissues.
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM; GTEx Consortium; Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE. Oliva M, et al. Science. 2020 Sep 11;369(6509):eaba3066. doi: 10.1126/science.aba3066. Science. 2020. PMID: 32913072 Free PMC article.
Transcriptomic signatures across human tissues identify functional rare genetic variation.
Ferraro NM, Strober BJ, Einson J, Abell NS, Aguet F, Barbeira AN, Brandt M, Bucan M, Castel SE, Davis JR, Greenwald E, Hess GT, Hilliard AT, Kember RL, Kotis B, Park Y, Peloso G, Ramdas S, Scott AJ, Smail C, Tsang EK, Zekavat SM, Ziosi M, Aradhana; TOPMed Lipids Working Group; Ardlie KG, Assimes TL, Bassik MC, Brown CD, Correa A, Hall I, Im HK, Li X, Natarajan P; GTEx Consortium; Lappalainen T, Mohammadi P, Montgomery SB, Battle A. Ferraro NM, et al. Science. 2020 Sep 11;369(6509):eaaz5900. doi: 10.1126/science.aaz5900. Epub 2020 Sep 10. Science. 2020. PMID: 32913073 Free PMC article.
Determinants of telomere length across human tissues.
Demanelis K, Jasmine F, Chen LS, Chernoff M, Tong L, Delgado D, Zhang C, Shinkle J, Sabarinathan M, Lin H, Ramirez E, Oliva M, Kim-Hellmuth S, Stranger BE, Lai TP, Aviv A, Ardlie KG, Aguet F, Ahsan H; GTEx Consortium; Doherty JA, Kibriya MG, Pierce BL. Demanelis K, et al. Science. 2020 Sep 11;369(6509):eaaz6876. doi: 10.1126/science.aaz6876. Science. 2020. PMID: 32913074 Free PMC article.
Cell type-specific genetic regulation of gene expression across human tissues.
Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Kasela S, Wucher V, Castel SE, Hamel AR, Viñuela A, Roberts AL, Mangul S, Wen X, Wang G, Barbeira AN, Garrido-Martín D, Nadel BB, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM; GTEx Consortium; Getz G, Dermitzakis ET, Small KS, Stephens M, Xi HS, Im HK, Guigó R, Segrè AV, Stranger BE, Ardlie KG, Lappalainen T. Kim-Hellmuth S, et al. Science. 2020 Sep 11;369(6509):eaaz8528. doi: 10.1126/science.aaz8528. Science. 2020. PMID: 32913075 Free PMC article.
A Quantitative Proteome Map of the Human Body.
Jiang L, Wang M, Lin S, Jian R, Li X, Chan J, Dong G, Fang H, Robinson AE; GTEx Consortium; Snyder MP. Jiang L, et al. Cell. 2020 Oct 1;183(1):269-283.e19. doi: 10.1016/j.cell.2020.08.036. Epub 2020 Sep 10. Cell. 2020. PMID: 32916130 Free PMC article.
1,488 results