Channel:  Human Pangenome Reference Consortium (HPRC)

158 Articles

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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
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
Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs
Lu, T.-Y. T., The Human Genome Structural Variation Consortium, , Chaisson, M. J.
10.1101/2020.08.13.249839 — Posted: 2021-01-04

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