Channel:  Human Pangenome Reference Consortium (HPRC)

95 Articles

KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mers
Meng, Q., Ji, H. P., Lee, H.
10.1101/2023.10.11.561941 — Posted: 2023-10-15
Local read haplotagging enables accurate long-read small variant calling
Kolesnikov, A., Cook, D. E., Nattestad, M., Ashley, E. A., Gorzynski, J., Goenka, S. D., Jain, M., McNulty, B., Miga, K. H., Paten, B., Chang, P.-C., Carroll, A., Shafin, K.
10.1101/2023.09.07.556731 — Posted: 2023-09-12
Regulatory Transposable Elements in the Encyclopedia of DNA Elements
Du, A. Y., Chobirko, J. D., Zhuo, X., Feschotte, C., Wang, T.
10.1101/2023.09.05.556380 — Posted: 2023-09-06
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

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