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72 results

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Page 1
Functional dissection of complex and molecular trait variants at single nucleotide resolution.
Siraj L, Castro RI, Dewey H, Kales S, Nguyen TTL, Kanai M, Berenzy D, Mouri K, Wang QS, McCaw ZR, Gosai SJ, Aguet F, Cui R, Vockley CM, Lareau CA, Okada Y, Gusev A, Jones TR, Lander ES, Sabeti PC, Finucane HK, Reilly SK, Ulirsch JC, Tewhey R. Siraj L, et al. Among authors: finucane hk. bioRxiv [Preprint]. 2024 May 6:2024.05.05.592437. doi: 10.1101/2024.05.05.592437. bioRxiv. 2024. PMID: 38766054 Free PMC article. Preprint.
Convergence of coronary artery disease genes onto endothelial cell programs.
Schnitzler GR, Kang H, Fang S, Angom RS, Lee-Kim VS, Ma XR, Zhou R, Zeng T, Guo K, Taylor MS, Vellarikkal SK, Barry AE, Sias-Garcia O, Bloemendal A, Munson G, Guckelberger P, Nguyen TH, Bergman DT, Hinshaw S, Cheng N, Cleary B, Aragam K, Lander ES, Finucane HK, Mukhopadhyay D, Gupta RM, Engreitz JM. Schnitzler GR, et al. Among authors: finucane hk. Nature. 2024 Feb;626(8000):799-807. doi: 10.1038/s41586-024-07022-x. Epub 2024 Feb 7. Nature. 2024. PMID: 38326615 Free PMC article.
Improving fine-mapping by modeling infinitesimal effects.
Cui R, Elzur RA, Kanai M, Ulirsch JC, Weissbrod O, Daly MJ, Neale BM, Fan Z, Finucane HK. Cui R, et al. Among authors: finucane hk. Nat Genet. 2024 Jan;56(1):162-169. doi: 10.1038/s41588-023-01597-3. Epub 2023 Nov 30. Nat Genet. 2024. PMID: 38036779 Free PMC article.
Cell-type-specific Alzheimer's disease polygenic risk scores are associated with distinct disease processes in Alzheimer's disease.
Yang HS, Teng L, Kang D, Menon V, Ge T, Finucane HK, Schultz AP, Properzi M, Klein HU, Chibnik LB, Schneider JA, Bennett DA, Hohman TJ, Mayeux RP, Johnson KA, De Jager PL, Sperling RA. Yang HS, et al. Among authors: finucane hk. Nat Commun. 2023 Nov 30;14(1):7659. doi: 10.1038/s41467-023-43132-2. Nat Commun. 2023. PMID: 38036535 Free PMC article.
An encyclopedia of enhancer-gene regulatory interactions in the human genome.
Gschwind AR, Mualim KS, Karbalayghareh A, Sheth MU, Dey KK, Jagoda E, Nurtdinov RN, Xi W, Tan AS, Jones H, Ma XR, Yao D, Nasser J, Avsec Ž, James BT, Shamim MS, Durand NC, Rao SSP, Mahajan R, Doughty BR, Andreeva K, Ulirsch JC, Fan K, Perez EM, Nguyen TC, Kelley DR, Finucane HK, Moore JE, Weng Z, Kellis M, Bassik MC, Price AL, Beer MA, Guigó R, Stamatoyannopoulos JA, Lieberman Aiden E, Greenleaf WJ, Leslie CS, Steinmetz LM, Kundaje A, Engreitz JM. Gschwind AR, et al. Among authors: finucane hk. bioRxiv [Preprint]. 2023 Nov 13:2023.11.09.563812. doi: 10.1101/2023.11.09.563812. bioRxiv. 2023. PMID: 38014075 Free PMC article. Preprint.
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases.
Weeks EM, Ulirsch JC, Cheng NY, Trippe BL, Fine RS, Miao J, Patwardhan TA, Kanai M, Nasser J, Fulco CP, Tashman KC, Aguet F, Li T, Ordovas-Montanes J, Smillie CS, Biton M, Shalek AK, Ananthakrishnan AN, Xavier RJ, Regev A, Gupta RM, Lage K, Ardlie KG, Hirschhorn JN, Lander ES, Engreitz JM, Finucane HK. Weeks EM, et al. Among authors: finucane hk. Nat Genet. 2023 Aug;55(8):1267-1276. doi: 10.1038/s41588-023-01443-6. Epub 2023 Jul 13. Nat Genet. 2023. PMID: 37443254 Free PMC article.
Cell-type-specific Alzheimer's disease polygenic risk scores are associated with distinct disease processes in Alzheimer's disease.
Yang HS, Teng L, Kang D, Menon V, Ge T, Finucane HK, Schultz AP, Properzi M, Klein HU, Chibnik LB, Schneider JA, Bennett DA, Hohman TJ, Mayeux RP, Johnson KA, De Jager PL, Sperling RA. Yang HS, et al. Among authors: finucane hk. medRxiv [Preprint]. 2023 Jun 5:2023.06.01.23290850. doi: 10.1101/2023.06.01.23290850. medRxiv. 2023. Update in: Nat Commun. 2023 Nov 30;14(1):7659. doi: 10.1038/s41467-023-43132-2. PMID: 37333223 Free PMC article. Updated. Preprint.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.
Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, O… See abstract for full author list ➔ Zhou W, et al. Among authors: finucane hk. Cell Genom. 2022 Oct 12;2(10):100192. doi: 10.1016/j.xgen.2022.100192. eCollection 2022 Oct 12. Cell Genom. 2022. PMID: 36777996 Free PMC article.
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts.
Wang Y, Namba S, Lopera E, Kerminen S, Tsuo K, Läll K, Kanai M, Zhou W, Wu KH, Favé MJ, Bhatta L, Awadalla P, Brumpton B, Deelen P, Hveem K, Lo Faro V, Mägi R, Murakami Y, Sanna S, Smoller JW, Uzunovic J, Wolford BN; Global Biobank Meta-analysis Initiative; Willer C, Gamazon ER, Cox NJ, Surakka I, Okada Y, Martin AR, Hirbo J. Wang Y, et al. Cell Genom. 2023 Jan 4;3(1):100241. doi: 10.1016/j.xgen.2022.100241. eCollection 2023 Jan 11. Cell Genom. 2023. PMID: 36777179 Free PMC article.
72 results