Channel:  Human Pangenome Reference Consortium (HPRC)

158 Articles

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
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
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
Lorig-Roach, R., Meredith, M., Monlong, J., Jain, M., Olsen, H., McNulty, B., Porubsky, D., Montague, T. G., Lucas, J., Condon, C., Eizenga, J., Juul, S., McKenzie, S., Simmonds, S., Park, J., Asri, M., Koren, S., Eichler, E., Axel, R., Martin, B., Carnevali, P., Miga, K., Paten, B.
10.1101/2023.02.21.529152 — Posted: 2023-02-22

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