Channel:  Human Pangenome Reference Consortium (HPRC)

102 Articles

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CoLoRd: Compressing long reads
Kokot, M., Gudys, A., Li, H., Deorowicz, S.
10.1101/2021.07.17.452767 — 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
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
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
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
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
KmerKeys: a web resource for searching indexed genome assemblies and variants
Pavlichin, D. S., Lee, H., Greer, S. U., Grimes, S. M., Weissman, T., Ji, H. P.
10.1101/2021.05.17.444256 — Posted: 2021-05-18

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