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Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.
Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA; Regeneron Genetics Center‡; GHS-RGC DiscovEHR Collaboration§; Drivas TG; Penn Medicine BioBank¶; Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Penn Medicine BioBank. Liu H, et al. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582
Insights from the Biorepository and Integrative Genomics pediatric resource.
Buonaiuto S, Marsico F, Mohammed A, Chinthala LK, Amos-Abanyie EK; Regeneron Genetics Center; Prins P, Mozhui K, Rooney RJ, Williams RW, Davis RL, Finkel TH, Brown CW, Colonna V. Buonaiuto S, et al. Nat Commun. 2025 May 22;16(1):4750. doi: 10.1038/s41467-025-59375-0. Nat Commun. 2025. PMID: 40404628 Free PMC article.