Channel:  Human Pangenome Reference Consortium (HPRC)

171 Articles

Discovery of Competent Chromatin Regions in Human Embryonic Stem Cells
Pulecio, J., Tayyebi, Z., Liu, D., Wong, W., Luo, R., Damodaran, J. R., Kaplan, S., Cho, H., Yan, J., Murphy, D. J., Rickert, R., Shukla, A., Zhong, A., Gonzalez, F., Yang, D., Li, W., Zhou, T., Apostolou, E., Leslie, C., Huangfu, D.
10.1101/2023.06.14.544990 — Posted: 2023-06-14
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
A transient dermal niche and dual epidermal programs underlie sweat gland development
Dingwall, H. L., Tomizawa, R. R., Aharoni, A., Hu, P., Qiu, Q., Kokalari, B., Martinez, S. M., Donahue, J. C., Aldea, D., Mendoza, M., Glass, I. A., Birth Defects Research Laboratory, , Wu, H., Kamberov, Y. G.
10.1101/2023.04.15.537037 — Posted: 2023-04-17
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
Dynamic network-guided CRISPRi screen reveals CTCF loop-constrained nonlinear enhancer-gene regulatory activity in cell state transitions
Luo, R., Yan, J., Oh, J. W., Xi, W., Shigaki, D., Wong, W., Cho, H., Murphy, D., Cutler, R., Rosen, B. P., Pulecio, J., Yang, D., Glenn, R., Chen, T., Li, Q. V., Vierbuchen, T., Sidoli, S., Apostolou, E., Huangfu, D., Beer, M. A.
10.1101/2023.03.07.531569 — Posted: 2023-03-09
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

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