Channel:  Human Pangenome Reference Consortium (HPRC)

102 Articles

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion.
Porubsky, D., Yoo, D., Dishuck, P. C., Koundinya, N., Souche, E., Harvey, W. T., Munson, K. M., Hoekzema, K., Chan, D. D., Leung, T. Y., Santos, M. S., Meynants, S., Swillen, A., Breckpot, J., Tsapalou, V., Hasenfeld, P., Korbel, J. O., Lansdorp, P. M., Vermeesch, J. R., Eichler, E. E.
10.1101/2025.07.04.662981 — Posted: 2025-07-07
Human-specific gene expansions contribute to brain evolution
Soto, D. C., Uribe-Salazar, J. M., Kaya, G., Valdarrago, R., Sekar, A., Haghani, N. K., Hino, K., La, G. N., Mariano, N. A. F., Ingamells, C., Baraban, A. E., Jamal, Z., Turner, T. N., Green, E. D., Simo, S., Quon, G., Andres, A., Dennis, M. Y.
10.1101/2024.09.26.615256 — Posted: 2025-06-25
Pangenome-aware DeepVariant
Asri, M., Chang, P.-C., Mier, J. C., Siren, J., Eskandar, P., Kolesnikov, A., Cook, D. E., Brambrink, L., Hickey, G., Novak, A. M., Dorfman, L., Webster, D. R., Carroll, A., Paten, B., Shafin, K.
10.1101/2025.06.05.657102 — Posted: 2025-06-06
A haplotype-resolved view of human gene regulation
Vollger, M. R., Swanson, E. G., Neph, S. J., Ranchalis, J., Munson, K. M., Ho, C.-H., Cheng, Y. H. H., Sedeno-Cortes, A. E., Fondrie, W. E., Bohaczuk, S. C., Dippel, M. A., Mao, Y., Parmalee, N. L., Mallory, B. J., 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: 2025-06-02
Lossless Pangenome Indexing Using Tag Arrays
Eskandar, P., Paten, B., Siren, J.
10.1101/2025.05.12.653561 — Posted: 2025-05-15
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: 2025-05-14
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: 2025-04-17
Genotyping sequence-resolved copy number variationusing pangenomes reveals paralog-specific global diversityand expression divergence of duplicated genes
Ma, W., Chaisson, M.
10.1101/2024.08.11.607269 — Posted: 2025-04-13
Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
Wang, Y., Sams, E. I., Slaugh, R., Crocker, S., Hurtado, E. C., Tracy, S., Hou, Y.-C. C., Markovic, C., Valle, K., Tate, V., Belhassan, K., Appelbaum, E., Akinwe, T., Tzovenos, R. S., Cao, Y., Neilson, A., Liu, Y., Jensen, N., Ghasemi, R., Lindsay, T., Manuel, J., Couteranis, S., Kremitzki, M., Ustanik, J., Antonacci, T., Ng, J. K., Emory, A., Metz, L., DeLuca, T., Lyons, K. N., Sinnwell, T., Thomeczek, B., Wang, K., Sisneros, N., Muraleedharan, M., Kethireddy, A., Corbo, M., Gowda, H., King, K., Gurnett, C. A., Dutcher, S. K., Gooch, C., Li, Y. E., Mitchell, M. W., Peterson, K. A., Horani, A.
10.1101/2025.03.28.25324850 — Posted: 2025-03-30
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
Billingsley, K. J., Meredith, M., Daida, K., 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.
10.1101/2024.12.16.628723 — Posted: 2024-12-18

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