Channel:  Human Pangenome Reference Consortium (HPRC)

168 Articles

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
Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions
Dong, S., Xing, X., Cechova, M., Loucks, H., Vijayalingam, S., Neilson, A., Sentmanat, M., Macias-Velasco, J. F., Liu, T., Dong, Z., Miao, B., Zhang, W., Tomlinson, C., Schmidt, H., Belter, E. A., Hu, M., Cui, X., Stitziel, N. O., Miga, K. H., Wang, T.
10.64898/2026.02.14.705860 — Posted: 2026-02-17
MissenseHMM: state-based annotations for missense variants through joint modeling of pathogenicity scores
Li, R., Ernst, J.
10.64898/2026.01.31.703062 — Posted: 2026-02-03
Spatial mapping of RNA turnover kinetics and regulatory landscapes of mRNA stability in the mammalian brain
Qiu, Q., Zhang, H., Xia, Z., Gao, W., Leu, J., Liang, D., Li, Y., Su, Y., Feierman, E., Horn, E. V., Ming, G.-l., Korb, E., Song, H., Zhou, Z., Wu, H.
10.64898/2026.01.29.702431 — Posted: 2026-01-29
A population-scale map of human tandem repeat composition and mutation dynamics from long-read assemblies
Gu, B., Peng, D., LaFlamme, C. W., Bennett, M. F., Bahlo, M., Weisburd, B., Mefford, H., The Human Genome Structural Variation Consortium, , The Human Pangenome Reference Consortium, , Chaisson, M.
10.1101/2024.08.07.607105 — Posted: 2026-01-24
Leveraging Human Pangenome for Improved Somatic Variant Detection
Fu, Q., Xin, Z., Miao, B., Zhang, W., Kong, N., Tang, Z., Ruttenberg, A., Albracht, D., Belter, E. A., Garza, J. E., Tomlinson, C., Mehinovic, E., Shen, J., Zhuo, X., Dong, S., Johnson, B. K., Majewski, M. F., Palmer, T., Jang, H. J., Cheng, Y., Li, Z., Lawson, H. A., Lindsay, T., Li, D., Fulton, R., Shen, H., Jin, S. C., SMaHT Network Assembly/Pangenome Working Group, , Macias-Velasco, J. F., Wang, T.
10.64898/2026.01.04.697580 — Posted: 2026-01-05
FastGxC: Fast and Powerful Context-Specific eQTL Mapping in Bulk and Single-Cell Data
Krockenberger, L., Lu, A., Thompson, M., Liu, C., Gordon, M. G., Ramste, A., Carcamo-Orive, I., Knowles, J. W., Dahl, A., Ye, C. J., Zaitlen, N., Balliu, B.
10.1101/2021.06.17.448889 — Posted: 2025-12-11
A global view of human centromere variation and evolution
Gao, S., Oshima, K. K., Chuang, S.-C., Loftus, M., Montanari, A., Gordon, D. S., Human Genome Structural Variation Consortium, , Human Pangenome Reference Consortium, , Hsieh, P., Konkel, M. K., Ventura, M., Logsdon, G. A.
10.64898/2025.12.09.693231 — Posted: 2025-12-11

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