Channel:  Human Pangenome Reference Consortium (HPRC)

166 Articles

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
Lossless Pangenome Indexing Using Tag Arrays
Eskandar, P., Paten, B., Siren, J.
10.1101/2025.05.12.653561 — Posted: 2025-12-05
Efficient near telomere-to-telomere assembly of Nanopore Simplex reads
Cheng, H., Qu, H., McKenzie, S., Lawrence, K. R., Windsor, R., Vella, M., Park, P. J., Li, H.
10.1101/2025.04.14.648685 — Posted: 2025-11-17
Assembling unmapped reads reveals hidden variation in South Asian genomes
Das, A., Biddanda, A., McCoy, R. C., Schatz, M.
10.1101/2025.05.14.653340 — Posted: 2025-10-30

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