Channel:  Human Pangenome Reference Consortium (HPRC)

171 Articles

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ImpuT2T: Pangenome-Based Patching for Human Genome Assemblies
Lin, M.-J., Shivakumar, V. S., Langmead, B., Human Pangenome Reference Consortium
10.64898/2026.07.27.741037 — Posted: 2026-07-28
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation
Lucas, J. K., Hebbar, P., Liao, W.-W., Macias-Velasco, J. F., Novak, A. M., Asri, M., Balacco, J. R., Blair, A. P., Ebler, J., Gardner, J. M. V., Geleta, M., Groza, C., Guarracino, A., Heringer, P., Hickey, G., Lu, S., Marin, M. G., Markovic, C., Mastoras, M., Mayoud, C., McNulty, B., Menendez, J. M., Minkina, A., Mohanty, S. K., Monlong, J., Munson, K. M., Oshima, K. K., Porubsky, D., Ranallo-Benavidez, T. R., Seligmann, W. E., Shemirani, R., Violich, I., Yoo, D., Zhuo, X., Albracht, D., Alexandrov, I. A., Allen, J., Alsheikh-Ali, A. A., Andrews, C., Antipov, D., Antonacci-Fulton, L., Arguell
10.64898/2026.07.21.739710 — Posted: 2026-07-22
GBZ-base and GAF-base: Indexed pangenome file formats
Siren, J., Paten, B., the Human Pangenome Reference Consortium
10.64898/2026.07.10.737775 — Posted: 2026-07-11
Deep dynamical models of single-cell multiomic velocities predict loss-of-function and rescue perturbations in B cells
Karbalayghareh, A., Pelzer, B., Chin, C. R., Melnick, A., Barisic, D., Leslie, C. S.
10.1101/2025.04.24.650458 — Posted: 2026-07-08
Navigating the pangenome coordinate system with Shredtools
Shivakumar, V. S., Langmead, B.
10.64898/2026.07.03.736354 — Posted: 2026-07-08
Complex structural variation, phylogeny, and disease associations of the mucin pangenome
Plender, E. G., Prodanov, T., Lin, J., Wong, I., Wertz, J., Gordon, W. W., Bamshad, M. J., Munson, K. M., O'Neal, W. K., Bloom, J. D., Human Pangenome Reference Consortium, , Marschall, T., Eichler, E. E.
10.64898/2026.07.01.26356476 — Posted: 2026-07-04
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

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