Channel:  Human Pangenome Reference Consortium (HPRC)

bioRxiv posts many COVID19-related papers. A reminder: they have not been formally peer-reviewed and should not guide health-related behavior or be reported in the press as conclusive.

67 Articles

The complete sequence of a human genome
Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., Aganezov, S., Hoyt, S. J., Diekhans, M., Logsdon, G. A., Alonge, M., Antonarakis, S. E., Borchers, M., Bouffard, G. G., Brooks, S. Y., Caldas, G. V., Cheng, H., Chin, C.-S., Chow, W., de Lima, L. G., Dishuck, P. C., Durbin, R., Dvorkina, T., Fiddes, I. T., Formenti, G., Fulton, R. S., Fungtammasan, A., Garrison, E., Grady, P. G. S., Graves-Lindsay, T. A., Hall, I. M., Hansen, N. F., Hartley, G. A., Haukness, M., Howe, K., Hunkapiller, M. W., Jain, C., Jain, M.
10.1101/2021.05.26.445798 — Posted: 2021-05-27
Epigenetic Patterns in a Complete Human Genome
Gershman, A., Sauria, M. E. G., Hook, P. W., Hoyt, S., Razaghi, R., Koren, S., Altemose, N., Caldas, G. V., Vollger, M. R., Logsdon, G., Rhie, A., Eichler, E., Schatz, M., O'Neill, R. J., Phillippy, A. M., Miga, K. H., Timp, W.
10.1101/2021.05.26.443420 — Posted: 2021-05-27
Segmental duplications and their variation in a complete human genome
Vollger, M. R., Guitart, X., Dishuck, P. C., Mercuri, L., Harvey, W. T., Gershman, A., Diekhans, M., Sulovari, A., Munson, K. M., Lewis, A. M., Hoekzema, K., Porubsky, D., Li, R., Nurk, S., Koren, S., Miga, K. H., Phillippy, A. M., Timp, W., Ventura, M., Eichler, E. E.
10.1101/2021.05.26.445678 — Posted: 2021-05-26
A species-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for preimplantation development
Modzelewski, A. J., Shao, W., Chen, J., Lee, A., Qi, X., Noon, M., Tjokro, K., Sales, G., Biton, A., Speed, T., Xuan, Z., Wang, T., Risso, D., He, L.
10.1101/2021.03.24.436683 — Posted: 2021-03-25
Haplotype-aware variant calling enables high accuracy in nanopore long-reads using deep neural networks
Shafin, K., Pesout, T., Chang, P.-C., Nattestad, M., Kolesnikov, A., Goel, S., Baid, G., Eizenga, J. M., Miga, K. H., Carnevali, P., Jain, M., Carroll, A., Paten, B.
10.1101/2021.03.04.433952 — Posted: 2021-03-05
Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit
Siren, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P.-C., Carroll, A., Gupta, N., Gabriel, S., Blackwell, T. W., Ratan, A., Taylor, K. D., Rich, S. S., Rotter, J. I., Haussler, D., Garrison, E., Paten, B.
10.1101/2020.12.04.412486 — Posted: 2021-02-02
De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation
Ebert, P., Audano, P. A., Zhu, Q., Rodriguez-Martin, B., Porubsky, D., Bonder, M. J., Sulovari, A., Ebler, J., Zhou, W., Serra Mari, R., Yilmaz, F., Zhao, X., Hsieh, P., Lee, J., Kumar, S., Lin, J., Rausch, T., Chen, Y., Ren, J., Santamarina, M., Hoeps, W., Ashraf, H., Chuang, N. T., Yang, X., Munson, K. M., Lewis, A. P., Fairley, S., Tallon, L. J., Clarke, W. E., Basile, A. O., Byrska-Bishop, M., Corvelo, A., Chaisson, M. J. P., Chen, J., Li, C., Brand, H., Wenger, A. M., Ghareghani, M., Harvey, W., Raeder, B., Hasenfeld, P., Regier, A., Abel, H., Hall, I., Flicek, P., Stegle, O., Gerstein, M
10.1101/2020.12.16.423102 — Posted: 2020-12-16
Towards Inferring Nanopore Sequencing Ionic Currents from Nucleotide Chemical Structures
DING, H., Anastopoulos, I., Bailey, A. D., Paten, B., Stuart, J.
10.1101/2020.11.30.404947 — Posted: 2020-12-02
UCSC Cell Browser: Visualize Your Single-Cell Data
Speir, M. L., Bhaduri, A., Markov, N. S., Moreno, P., Nowakowski, T. J., Papatheodorou, I., Pollen, A. A., Seninge, L., Kent, W. J., Haeussler, M.
10.1101/2020.10.30.361162 — Posted: 2020-10-31
The structure, function, and evolution of a complete human chromosome 8
Logsdon, G. A., Vollger, M. R., Hsieh, P., Mao, Y., Liskovykh, M. A., Koren, S., Nurk, S., Mercuri, L., Dishuck, P. C., Rhie, A., de Lima, L. G., Porubsky, D., Bzikadze, A. V., Kremitzki, M., Graves-Lindsay, T. A., Jain, C., Hoekzema, K., Murali, S. C., Munson, K. M., Baker, C., Sorenson, M., Lewis, A. M., Surti, U., Gerton, J. L., Larionov, V., Ventura, M., Miga, K. H., Phillippy, A. M., Eichler, E. E.
10.1101/2020.09.08.285395 — Posted: 2020-09-08

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