Polymorphism, Single Nucleotide

Displaying 1 - 18 of 18CSV
Kim, J., Williams, A., Noh, H., Jasper, E. A., Jones, S. H., Jaworski, J. A., Shuey, M. M., Ruiz-Narváez, E. A., Wise, L. A., Palmer, J. R., Connolly, J., Keaton, J. M., Denny, J. C., Khan, A., Abbass, M. A., Rasmussen-Torvik, L. J., Kottyan, L. C., Madhivanan, P., Krupp, K., … Hellwege, J. N. (2025). Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-57483-5
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Simeone, C. A., McNulty, M. T., Gupta, Y., Genovese, G., Sampson, M. G., Sanna-Cherchi, S., Friedman, D. J., & Pollak, M. R. (2024). The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. G3: Genes, Genomes, Genetics. https://doi.org/10.1093/g3journal/jkae290
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Grodstein, F., Lemos, B., Yang, J., de Paiva Lopes, K., Vialle, R. A., Seyfried, N., Wang, Y., Shireby, G., Hannon, E., Thomas, A., Brookes, K., Mill, J., De Jager, P. L., & Bennett, D. A. (2024). Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in CD46 and other loci. Epigenetics, 19(1). https://doi.org/10.1080/15592294.2024.2392050
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Vandebergh, M., Ramos, E. M., Corriveau-Lecavalier, N., Ramanan, V. K., Kornak, J., Mester, C., Kolander, T., Brushaber, D. E., Staffaroni, A. M., Geschwind, D. H., Wolf, A. A., Kantarci, K., Gendron, T., Petrucelli, L., Van den Broeck, M., Wynants, S., Baker, M., Borrego-Écija, S., … Appleby, B. (2024). Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration. Neurology, 103(8). https://doi.org/10.1212/wnl.0000000000209832
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Chen, Q., Aguirre, L., Liang, G., Zhao, H., Dong, T., Borrego, F., de Rojas, I., Hu, Q., Reyes, C., Su, L.-Y., Zhang, B., Lechleiter, J. D., Göring, H. H. H., De Jager, P. L., Kleinman, J. E., Hyde, T. M., Li, P. P., Ruiz, A., Weinberger, D. R., … Ma, L. (2024). Identification of a specific APOE transcript and functional elements associated with Alzheimer’s disease. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00751-7
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Mosley, J. D., Shelley, J. P., Dickson, A. L., Zanussi, J., Daniel, L. L., Zheng, N. S., Bastarache, L., Wei, W.-Q., Shi, M., Jarvik, G. P., Rosenthal, E. A., Khan, A., Sherafati, A., Kullo, I. J., Walunas, T. L., Glessner, J., Hakonarson, H., Cox, N. J., Roden, D. M., … Kawai, V. K. (2024). Clinical associations with a polygenic predisposition to benign lower white blood cell counts. Nature Communications, 15(1). https://doi.org/10.1038/s41467-024-47804-5
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Einson, J., Minaeva, M., Rafi, F., & Lappalainen, T. (2024). The impact of genetically controlled splicing on exon inclusion and protein structure. PLOS ONE, 19(3), e0291960. https://doi.org/10.1371/journal.pone.0291960
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Kim, K., Jun, T.-H., Ha, B.-K., Wang, S., & Sun, H. (2023). New statistical selection method for pleiotropic variants associated with both quantitative and qualitative traits. BMC Bioinformatics, 24(1). https://doi.org/10.1186/s12859-023-05505-8
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Liu, W., Lin, H., Liu, L., Ma, Y., Wei, Y., & Li, Y. (2023). Supervised structural learning of semiparametric regression on high‐dimensional correlated covariates with applications to eQTL studies. Statistics in Medicine, 42(18), 3145–3163. Portico. https://doi.org/10.1002/sim.9769
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Morgante, F., Carbonetto, P., Wang, G., Zou, Y., Sarkar, A., & Stephens, M. (2023). A flexible empirical Bayes approach to multivariate multiple regression, and its improved accuracy in predicting multi-tissue gene expression from genotypes. PLOS Genetics, 19(7), e1010539. https://doi.org/10.1371/journal.pgen.1010539
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Yang, Z., Wang, C., Liu, L., Khan, A., Lee, A., Vardarajan, B., Mayeux, R., Kiryluk, K., & Ionita-Laza, I. (2023). CARMA is a new Bayesian model for fine-mapping in genome-wide association meta-analyses. Nature Genetics, 55(6), 1057–1065. https://doi.org/10.1038/s41588-023-01392-0
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Jang, S.-K., Evans, L., Fialkowski, A., Arnett, D. K., Ashley-Koch, A. E., Barnes, K. C., Becker, D. M., Bis, J. C., Blangero, J., Bleecker, E. R., Boorgula, M. P., Bowden, D. W., Brody, J. A., Cade, B. E., Jenkins, B. W. C., Carson, A. P., Chavan, S., Cupples, L. A., Custer, B., … Vrieze, S. (2022). Rare genetic variants explain missing heritability in smoking. Nature Human Behaviour, 6(11), 1577–1586. https://doi.org/10.1038/s41562-022-01408-5
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Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., Miao, J., Arias, J. D., Graham, S. E., Mukamel, R. E., Spracklen, C. N., Yin, X., Chen, S.-H., Ferreira, T., Highland, H. H., … Hirschhorn, J. N. (2022). A saturated map of common genetic variants associated with human height. Nature, 610(7933), 704–712. https://doi.org/10.1038/s41586-022-05275-y
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Jones, A. V., Curtiss, D., Harris, C., Southerington, T., Hautalahti, M., Wihuri, P., Mäkelä, J., Kallionpää, R. E., Makkonen, E., Knopp, T., Mannermaa, A., Mäkinen, E., Moilanen, A.-M., Tezel, T. H., & Waheed, N. K. (2022). An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access. PLOS ONE, 17(9), e0272260. https://doi.org/10.1371/journal.pone.0272260
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Ramdas, S., Judd, J., Graham, S. E., Kanoni, S., Wang, Y., Surakka, I., Wenz, B., Clarke, S. L., Chesi, A., Wells, A., Bhatti, K. F., Vedantam, S., Winkler, T. W., Locke, A. E., Marouli, E., Zajac, G. J. M., Wu, K.-H. H., Ntalla, I., Hui, Q., … Brown, C. D. (2022). A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. The American Journal of Human Genetics, 109(8), 1366–1387. https://doi.org/10.1016/j.ajhg.2022.06.012
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Škorić-Milosavljević, D., Tadros, R., Bosada, F. M., Tessadori, F., van Weerd, J. H., Woudstra, O. I., Tjong, F. V. Y., Lahrouchi, N., Bajolle, F., Cordell, H. J., Agopian, A. J., Blue, G. M., Barge-Schaapveld, D. Q. C. M., Gewillig, M., Preuss, C., Lodder, E. M., Barnett, P., Ilgun, A., Beekman, L., … Bezzina, C. R. (2022). Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circulation Research, 130(2), 166–180. https://doi.org/10.1161/circresaha.120.317107
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Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., … Arking, D. E. (2021). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human Genetics, 141(1), 127–146. https://doi.org/10.1007/s00439-021-02394-w
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