Channel:  Human Pangenome Reference Consortium (HPRC)

102 Articles

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The complete sequence of a human Y chromosome
Rhie, A., Nurk, S., Cechova, M., Hoyt, S. J., Taylor, D. J., Altemose, N., Hook, P. W., Koren, S., Rautiainen, M., Alexandrov, I. A., Allen, J., Asri, M., Bzikadze, A. V., Chen, N.-C., Chin, C.-S., Diekhans, M., Flicek, P., Formenti, G., Fungtammasan, A., Garcia Giron, C., Garrison, E., Gershman, A., Gerton, J., Grady, P. G., Guarracino, A., Haggerty, L., Halabian, R., Hansen, N. F., Harris, R., Hartley, G. A., Harvey, W. T., Haukness, M., Heinz, J., Hourlier, T., Hubley, R. M., Hunt, S. E., Hwang, S., Jain, M., Kesharwani, R. K., Lewis, A. P., Li, H., Logsdon, G. A., Lucas, J. K., Makalowski
10.1101/2022.12.01.518724 — Posted: 2023-07-11
Assembly of 43 diverse human Y chromosomes reveals extensive complexity and variation
Hallast, P., Ebert, P., Loftus, M., Yilmaz, F., Audano, P. A., Logsdon, G. A., Bonder, M. J., Zhou, W., Hoeps, W., Kim, K., Li, C., Hoyt, S. J., Dishuck, P. C., Porubsky, D., Tsetsos, F., Kwon, J. Y., Zhu, Q., Munson, K. M., Hasenfeld, P., Harvey, W. T., Lewis, A. P., Kordosky, J., Hoekzema, K., (HGSVC), T. H. G. S. V. C., O'Neill, R. J., Korbel, J. O., Tyler-Smith, C., Eichler, E. E., Shi, X., Beck, C. R., Marschall, T., Konkel, M. K., Lee, C.
10.1101/2022.12.01.518658 — Posted: 2023-06-12
Evaluation of haplotype-aware long-read error correction with hifieval
Guo, Y., Feng, X., Li, H.
10.1101/2023.06.05.543788 — Posted: 2023-06-07
A comprehensive catalog of 3D genome organization in diverse human genomes facilitates understanding of the impact of structural variation on chromatin structure
Li, C., Bonder, M. J., Syed, S., Human Genome Structural Variation Consortium (HGSVC), , HGSVC Functional Analysis Working Group, , Zody, M. C., Chaisson, M. J. P., Talkowski, M. E., Marschall, T., Korbel, J. O., Eichler, E. E., Lee, C., Shi, X.
10.1101/2023.05.15.540856 — Posted: 2023-05-15
Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall
Harvey, W. T., Ebert, P., Ebler, J., Audano, P. A., Munson, K. M., Hoekzema, K., Porubsky, D. E., Beck, C. R., Marschall, T. R., Garimella, K. V., Eichler, E. E.
10.1101/2023.05.04.539448 — Posted: 2023-05-04
Pangenome Graph Construction from Genome Alignment with Minigraph-Cactus
Hickey, G., Monlong, J., Ebler, J., Novak, A., Eizenga, J. M., Gao, Y., Human Pangenome Reference Consortium, , Marschall, T., Li, H., Paten, B.
10.1101/2022.10.06.511217 — Posted: 2023-04-12
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Kolmogorov, M., Billingsley, K. J., Mastoras, M., Meredith, M., Monlong, J., Lorig-Roach, R., Asri, M., Alvarez Jerez, P., Malik, L., Dewan, R., Reed, X., Genner, R. M., Daida, K., Behera, S., Shafin, K., Pesout, T., Prabakaran, J., Carnevali, P., North American Brain Expression Consortium (NABEC), , Yang, J., Rhie, A., Scholz, S. W., Traynor, B. J., Miga, K. H., Jain, M., Timp, W., Phillippy, A. M., Chaisson, M., Sedlazeck, F. J., Blauwendraat, C., Paten, B.
10.1101/2023.01.12.523790 — Posted: 2023-04-05
Evolutionary constraint and innovation across hundreds of placental mammals
Christmas, M. J., Kaplow, I. M., Genereux, D. P., Dong, M. X., Hughes, G. M., Li, X., Sullivan, P. F., Hindle, A. G., Andrews, G., Armstrong, J. C., Bianchi, M., Breit, A. M., Diekhans, M., Fanter, C., Foley, N. M., Goodman, D. B., Goodman, L., Keough, K. C., Kirilenko, B., Kowalczyk, A., Lawless, C., Lind, A. L., Meadows, J. R. S., Moreira, L. R., Redlich, R. W., Ryan, L., Swofford, R., Valenzuela, A., Wagner, F., Wallerman, O., Brown, A. R., Damas, J., Fan, K., Gatesy, J., Grimshaw, J., Johnson, J., Kozyrev, S. V., Lawler, A. J., Marinescu, V. D., Morrill, K. M., Osmanski, A., Paulat, N. S.
10.1101/2023.03.09.531574 — Posted: 2023-03-09
Structurally divergent and recurrently mutated regions of primate genomes
Mao, Y., Harvey, W. T., Porubsky, D., Munson, K. M., Hoekzema, K., Lewis, A. P., Audano, P. A., Rozanski, A., Yang, X., Zhang, S., Gordon, D. S., Wei, X., Logsdon, G. A., Haukness, M., Dishuck, P. C., Jeong, H., del Rosario, R., Bauer, V. L., Fattor, W. T., Wilkerson, G. K., Lu, Q., Paten, B., Feng, G., Sawyer, S. L., Warren, W. C., Carbone, L., Eichler, E. E.
10.1101/2023.03.07.531415 — Posted: 2023-03-07
The motif composition of variable-number tandem repeats impacts gene expression
Lu, T.-Y. T., Smaruj, P. N., Fudenberg, G., Mancuso, N., Chaisson, M.
10.1101/2022.03.17.484784 — Posted: 2023-03-05

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