Channel:  Human Pangenome Reference Consortium (HPRC)

166 Articles

Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
Vollger, M. R., Swanson, E. G., Neph, S. J., Mallory, B. J., Dubocanin, D., Ho, C.-H., Cheng, Y. H. H., Ranchalis, J., Munson, K. M., Sedeno-Cortes, A. E., Mudeppa, D. G., Fondrie, W. E., Bohaczuk, S. C., Dippel, M. A., Mao, Y., Parmalee, N. L., Harvey, W. T., Kwon, Y., Garcia, G. H., Hoekzema, K., Meyer, J. G., Cicek, M., Eichler, E. E., Noble, W. S., Witten, D. M., Bennett, J. T., Ray, J. P., Stergachis, A. B.
10.1101/2024.06.14.599122 — Posted: 2026-05-08
Fixed human pangenome sequences reveal origins of common human traits
Goh, C.-s., Davenport, M., Lee, C., Jarvis, E.
10.64898/2026.04.30.722098 — Posted: 2026-05-05
Functional genomics reveals mediators of beta cell survival in ER stress and type 2 diabetes risk
Okino, M.-L., Zhu, H., Corban, S., Benaglio, P., Djulamsah, J., OMahony, B., Vanderstel, K., Elgamal, R., Miller, M., Wang, A., Sander, M., Gaulton, K. J.
10.64898/2026.03.30.715154 — Posted: 2026-04-02
Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes
Rhie, A., Kim, J., Rodriguez-Algarra, F., Solar, S. J., Koren, S., Antipov, D., Wilczewski, C. M., Maxwell, G. L., Gerton, J., Paschall, J., Potapova, T., Wolfsberg, T. G., Singh, S., del Castillo del Rio, S. O., Human Pangenome Reference Consortium, , Turner, C., Rakyan, V. K., Phillippy, A. M.
10.64898/2026.03.08.710242 — Posted: 2026-03-27
pertTF: context-aware AI modeling for genome-scale and cross-system perturbation prediction
Su, Y., Liu, D., Menon, V., Song, B., Boccara, S., Zhang, N., Zhao, H., Zhao, J. H., Wang, L., Hu, N., Nzima, M., Katz, A., Swargam, B. K., Ament, S. A., Diao, Y., Zhang, H., Chao, L., Hon, G., Huangfu, D., Li, W.
10.64898/2026.03.12.711379 — Posted: 2026-03-16
Reprogramming of neuronal genome function and phenotype by astrocytes
Li, B., Hagy, K., Safi, A., Beer, M. A., Barrera, A., Geraghty, S., Rai, R., Pederson, A. N., Reisman, S. J., Love, M. I., Sullivan, P. F., Eroglu, C., Crawford, G. E., Gersbach, C. A.
10.64898/2026.03.07.710282 — Posted: 2026-03-07
FourC: identifying significant and differential contacts in 1D chromatin conformation data
Wong, W., Kaplan, S. J., Luo, R., Pulecio Rojas, J. A., Yan, J., Huangfu, D., Leslie, C. S.
10.64898/2026.03.05.709811 — Posted: 2026-03-07
Evaluating genome assemblies with HMM-Flagger
Asri, M., Eizenga, J. M., Hebbar, P., Real, T. D., Lucas, J., Loucks, H., Calicchio, A., Diekhans, M., Eichler, E. E., Salama, S., Miga, K. H., Paten, B.
10.64898/2026.02.27.708355 — Posted: 2026-03-02
Uncertainty-aware synthetic lethality prediction with pretrained foundation models
Hua, K., Haber, E., Ma, J.
10.64898/2026.02.25.708096 — Posted: 2026-02-27
A scalable approach to resolving variants of uncertain significance
Tejura, M., Chen, Y., McEwen, A. E., Stewart, R., Sverchkov, Y., Laval, F., Woo, I., Zeiberg, D., Shen, R., Fayer, S., Stone, J., Smith, N., Casadei, S., Wang, Z. R., Snyder, M., Capodanno, B. J., Gupta, P., Benazouz, M., Jain, S., Heidl, S., Muffley, L., Dong, S., Lin, K., Hitz, B. C., Gabdank, I., Da, E. Y., Best, S., Grindstaff, S., Reinhart, D., Rodriguez-Salas, L., Seid, O., Vandi, A. J., Wenman, C., Wheelock, M. K., Pendyala, S., Holmes, D., Xu, A., Hosokai, A., Tixhon, M., Reno, C., Ewald, J. D., Spirohn-Fitzgerald, K., Teelucksingh, T., Hao, T., Chen, Z. S., Haghighi, M., Hamid, A. K.
10.64898/2026.02.14.705848 — Posted: 2026-02-23

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