Channel:  Human Pangenome Reference Consortium (HPRC)

171 Articles

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: 2026-10-13
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: 2026-09-29
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: 2026-09-23
Haplotype-Resolved Long-Read Sequencing in Hundreds of Diverse Brains Identifies Structural Variant Impacts on Expression and Allele-Specific Methylation
Meredith, M., Daida, K., Moller, A., Alvarez Jerez, P., Negi, S., Malik, L., Genner, R. M., Moller, A., Zheng, X., Gibson, S. B., Mastoras, M., Baker, B., Kouam, C., Paquette, K., Jarreau, P., Makarious, M. B., Moore, A., Hong, S., Vitale, D., Shah, S., Monlong, J., Pantazis, C. B., Asri, M., Shafin, K., Carnevali, P., Marenco, S., Auluck, P., Mandal, A., Miga, K. H., Rhie, A., Reed, X., Ding, J., Cookson, M. R., Nalls, M., Singleton, A., Miller, D. E., Chaisson, M., Timp, W., Gibbs, J. R., Phillippy, A. M., Kolmogorov, M., Jain, M., Sedlazeck, F. J., Paten, B., Blauwendraat, C., Billingsley
10.1101/2024.12.16.628723 — Posted: 2026-08-27
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
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
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: 2026-06-24
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

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