Genome, Human

Displaying 1 - 8 of 8CSV
Lu, J., Toro, C., Adams, D. R., Acosta, M. T., Adam, M., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., … Beck, A. (2024). LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-023-09935-9
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Kun, E., Javan, E. M., Smith, O., Gulamali, F., de la Fuente, J., Flynn, B. I., Vajrala, K., Trutner, Z., Jayakumar, P., Tucker-Drob, E. M., Sohail, M., Singh, T., & Narasimhan, V. M. (2023). The genetic architecture and evolution of the human skeletal form. Science, 381(6655). https://doi.org/10.1126/science.adf8009
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Erwin, G. S., Gürsoy, G., Al-Abri, R., Suriyaprakash, A., Dolzhenko, E., Zhu, K., Hoerner, C. R., White, S. M., Ramirez, L., Vadlakonda, A., Vadlakonda, A., von Kraut, K., Park, J., Brannon, C. M., Sumano, D. A., Kirtikar, R. A., Erwin, A. A., Metzner, T. J., Yuen, R. K. C., … Snyder, M. P. (2022). Recurrent repeat expansions in human cancer genomes. Nature, 613(7942), 96–102. https://doi.org/10.1038/s41586-022-05515-1
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Dennis, J., Tyrer, J. P., Walker, L. C., Michailidou, K., Dorling, L., Bolla, M. K., Wang, Q., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Freeman, L. E. B., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Bogdanova, N. V., … Easton, D. F. (2022). Rare germline copy number variants (CNVs) and breast cancer risk. Communications Biology, 5(1). https://doi.org/10.1038/s42003-021-02990-6
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Xu, J., Song, F., Lyu, H., Kobayashi, M., Zhang, B., Zhao, Z., Hou, Y., Wang, X., Luan, Y., Jia, B., Stasiak, L., Wong, J. H., Wang, Q., Jin, Q., Jin, Q., Fu, Y., Yang, H., Hardison, R. C., Dovat, S., … Yue, F. (2022). Subtype-specific 3D genome alteration in acute myeloid leukaemia. Nature, 611(7935), 387–398. https://doi.org/10.1038/s41586-022-05365-x
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Hayeck, T. J., Stong, N., Baugh, E., Dhindsa, R., Turner, T. N., Malakar, A., Mosbruger, T. L., Shaw, G. T.-W., Duan, Y., Ionita-Laza, I., Goldstein, D., & Allen, A. S. (2022). Ancestry adjustment improves genome-wide estimates of regional intolerance. Genetics. https://doi.org/10.1093/genetics/iyac050
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Li, X., Yung, G., Zhou, H., Sun, R., Li, Z., Hou, K., Zhang, M. J., Liu, Y., Arapoglou, T., Wang, C., Ionita-Laza, I., & Lin, X. (2022). A multi-dimensional integrative scoring framework for predicting functional variants in the human genome. The American Journal of Human Genetics, 109(3), 446–456. https://doi.org/10.1016/j.ajhg.2022.01.017
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