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Page 1
Opportunities and challenges for transcriptome-wide association studies.
Wainberg M, Sinnott-Armstrong N, Mancuso N, Barbeira AN, Knowles DA, Golan D, Ermel R, Ruusalepp A, Quertermous T, Hao K, Björkegren JLM, Im HK, Pasaniuc B, Rivas MA, Kundaje A. Wainberg M, et al. Nat Genet. 2019 Apr;51(4):592-599. doi: 10.1038/s41588-019-0385-z. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926968 Free PMC article. Review.
Multiple causal variants underlie genetic associations in humans.
Abell NS, DeGorter MK, Gloudemans MJ, Greenwald E, Smith KS, He Z, Montgomery SB. Abell NS, et al. Science. 2022 Mar 18;375(6586):1247-1254. doi: 10.1126/science.abj5117. Epub 2022 Mar 17. Science. 2022. PMID: 35298243 Free PMC article.
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases.
Corces MR, Shcherbina A, Kundu S, Gloudemans MJ, Frésard L, Granja JM, Louie BH, Eulalio T, Shams S, Bagdatli ST, Mumbach MR, Liu B, Montine KS, Greenleaf WJ, Kundaje A, Montgomery SB, Chang HY, Montine TJ. Corces MR, et al. Nat Genet. 2020 Nov;52(11):1158-1168. doi: 10.1038/s41588-020-00721-x. Epub 2020 Oct 26. Nat Genet. 2020. PMID: 33106633 Free PMC article.
The functional impact of rare variation across the regulatory cascade.
Li T, Ferraro N, Strober BJ, Aguet F, Kasela S, Arvanitis M, Ni B, Wiel L, Hershberg E, Ardlie K, Arking DE, Beer RL, Brody J, Blackwell TW, Clish C, Gabriel S, Gerszten R, Guo X, Gupta N, Johnson WC, Lappalainen T, Lin HJ, Liu Y, Nickerson DA, Papanicolaou G, Pritchard JK, Qasba P, Shojaie A, Smith J, Sotoodehnia N, Taylor KD, Tracy RP, Van Den Berg D, Wheeler MT, Rich SS, Rotter JI, Battle A, Montgomery SB. Li T, et al. Cell Genom. 2023 Sep 6;3(10):100401. doi: 10.1016/j.xgen.2023.100401. eCollection 2023 Oct 11. Cell Genom. 2023. PMID: 37868038 Free PMC article.
Multicenter integrated analysis of noncoding CRISPRi screens.
Yao D, Tycko J, Oh JW, Bounds LR, Gosai SJ, Lataniotis L, Mackay-Smith A, Doughty BR, Gabdank I, Schmidt H, Guerrero-Altamirano T, Siklenka K, Guo K, White AD, Youngworth I, Andreeva K, Ren X, Barrera A, Luo Y, Yardımcı GG, Tewhey R, Kundaje A, Greenleaf WJ, Sabeti PC, Leslie C, Pritykin Y, Moore JE, Beer MA, Gersbach CA, Reddy TE, Shen Y, Engreitz JM, Bassik MC, Reilly SK. Yao D, et al. Nat Methods. 2024 Apr;21(4):723-734. doi: 10.1038/s41592-024-02216-7. Epub 2024 Mar 19. Nat Methods. 2024. PMID: 38504114 Free PMC article.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
de Goede OM, Nachun DC, Ferraro NM, Gloudemans MJ, Rao AS, Smail C, Eulalio TY, Aguet F, Ng B, Xu J, Barbeira AN, Castel SE, Kim-Hellmuth S, Park Y, Scott AJ, Strober BJ; GTEx Consortium; Brown CD, Wen X, Hall IM, Battle A, Lappalainen T, Im HK, Ardlie KG, Mostafavi S, Quertermous T, Kirkegaard K, Montgomery SB. de Goede OM, et al. Cell. 2021 May 13;184(10):2633-2648.e19. doi: 10.1016/j.cell.2021.03.050. Epub 2021 Apr 16. Cell. 2021. PMID: 33864768 Free PMC article.
Shared heritability of human face and brain shape.
Naqvi S, Sleyp Y, Hoskens H, Indencleef K, Spence JP, Bruffaerts R, Radwan A, Eller RJ, Richmond S, Shriver MD, Shaffer JR, Weinberg SM, Walsh S, Thompson J, Pritchard JK, Sunaert S, Peeters H, Wysocka J, Claes P. Naqvi S, et al. Nat Genet. 2021 Jun;53(6):830-839. doi: 10.1038/s41588-021-00827-w. Epub 2021 Apr 5. Nat Genet. 2021. PMID: 33821002 Free PMC article.
61 results