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.

94 Articles

StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps
Vollger, M. R., Kerpedjiev, P., Phillippy, A. M., Eichler, E. E.
10.1101/2021.08.19.457003 — Posted: 2021-08-21
CoLoRd: Compressing long reads
Kokot, M., Gudys, A., Li, H., Deorowicz, S.
10.1101/2021.07.17.452767 — Posted: 2021-07-19
Complete genomic and epigenetic maps of human centromeres
Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L., Ryabov, F. D., Shew, C. J., Sauria, M. E. G., Borchers, M., Gershman, A., Mikheenko, A., Shepelev, V. A., Dvorkina, T., Kunyavskaya, O., Vollger, M. R., Rhie, A., McCartney, A. M., Asri, M., Lorig-Roach, R., Shafin, K., Aganezov, S., Olson, D., Gomes de Lima, L., Potapova, T., Hartley, G. A., Haukness, M., Kerpedjiev, P., Gusev, F., Tigyi, K., Brooks, S., Young, A., Nurk, S., Koren, S., Salama, S. R., Paten, B., Rogaev, E. I., Streets, A., Karpen, G. H., Dernburg, A. F., Sulliv
10.1101/2021.07.12.452052 — Posted: 2021-07-19
Merfin: improved variant filtering and polishing via k-mer validation
Formenti, G., Rhie, A., Walenz, B. P., Thibaud-Nissen, F., Shafin, K., Koren, S., Myers, E. W., Jarvis, E. D., Phillippy, A. M.
10.1101/2021.07.16.452324 — Posted: 2021-07-18
A complete reference genome improves analysis of human genetic variation
Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., Wagner, J., McDaniel, J., Olson, N. D., Sauria, M. E. G., Vollger, M. R., Rhie, A., Meredith, M., Martin, S., Lee, J., Koren, S., Rosenfeld, J., Paten, B., Layer, R., Chin, C.-S., Sedlazeck, F. J., Hansen, N. F., Miller, D. E., Phillippy, A. M., Miga, K. H., McCoy, R. C., Dennis, M. Y., Zook, J. M., Schatz, M. C.
10.1101/2021.07.12.452063 — Posted: 2021-07-13
From telomere to telomere: the transcriptional and epigenetic state of human repeat elements
Hoyt, S. J., Storer, J. M., Hartley, G. A., Grady, P. G. S., Gershman, A., de Lima, L. G., Limouse, C., Halabian, R., Wojenski, L., Rodriguez, M., Altemose, N., Core, L., Gerton, J. L., Makalowski, W., Olson, D., Rosen, J., Smit, A. F. A., Straight, A. F., Vollger, M. R., Wheeler, T., Schatz, M., Eichler, E., Phillippy, A. M., Timp, W., Miga, K. H., O'Neill, R. J.
10.1101/2021.07.12.451456 — Posted: 2021-07-12
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Mc Cartney, A. M., Shafin, K., Alonge, M., Bzikadze, A. V., Formenti, G., Fungtammasan, A., Howe, K., Jain, C., Koren, S., Logsdon, G. A., Miga, K. H., Mikheenko, A., Paten, B., Shumate, A., Soto, D. C., Sovic, I., Wood, J. M., Zook, J. M., Phillippy, A. M., Rhie, A.
10.1101/2021.07.02.450803 — Posted: 2021-07-02
Single cell characterization of CRISPR-modified transcript isoforms with nanopore sequencing
Kim, H. S., Grimes, S. M., Hooker, A. C., Lau, B. T., Ji, H. P.
10.1101/2021.07.01.450805 — Posted: 2021-07-02
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
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

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