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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.
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
Kerimov N, Tambets R, Hayhurst JD, Rahu I, Kolberg P, Raudvere U, Kuzmin I, Chowdhary A, Vija A, Teras HJ, Kanai M, Ulirsch J, Ryten M, Hardy J, Guelfi S, Trabzuni D, Kim-Hellmuth S, Rayner W, Finucane H, Peterson H, Mosaku A, Parkinson H, Alasoo K. Kerimov N, et al. Among authors: finucane h. PLoS Genet. 2023 Sep 18;19(9):e1010932. doi: 10.1371/journal.pgen.1010932. eCollection 2023 Sep. PLoS Genet. 2023. PMID: 37721944 Free PMC article.
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.
96 results