Channel:  Human Pangenome Reference Consortium (HPRC)

95 Articles

Complete and haplotype-specific sequence assembly of segmental duplication-mediated genome rearrangements using CRISPR-targeted ultra-long read sequencing (CTLR-Seq)
Zhou, B., Shin, G., Greer, S. U., Vervoort, L., Huang, Y., Pattni, R., Ho, M., Wong, W. H., Vermeesch, J. R., Ji, H., Urban, A. E.
10.1101/2020.10.23.349621 — Posted: 2020-11-05
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
Transcript assembly improves expression quantification of transposable elements in single cell RNA-seq data
Shao, W., Wang, T.
10.1101/2020.07.31.231027 — Posted: 2020-07-31
Accurate chromosome-scale haplotype-resolved assembly of human genomes
Garg, S., Arkarachai Fungtammasan, A., Carroll, A., Chou, M., Schmitt, A., Zhou, X., Mac, S., Peluso, P., Hatas, E., Ghurye, J., Maguire, J., Mahmoud, M., Cheng, H., Heller, D., Zook, J. M., Moemke, T., Marschall, T., Sedlazeck, F. J., Aach, J., Chin, C.-S., Church, G. M., Li, H. M.
10.1101/810341 — Posted: 2020-07-01
Unique K-mer sequences for validating cancer-related substitution, insertion and deletion mutations
Lee, H., Shuaibi, A. A., Bell, J., Pavlichin, D. S., Ji, H.
10.1101/2020.06.20.163113 — Posted: 2020-06-20
Higher rates of processed pseudogene acquisition in humans and three great apes revealed by long read assemblies
Feng, X., Li, H.
10.1101/2020.06.07.139212 — Posted: 2020-06-08
The qBED track: a novel genome browser visualization for point processes
Moudgil, A., Li, D., Hsu, S., Purushotham, D., Wang, T., Mitra, R. D.
10.1101/2020.04.27.060061 — Posted: 2020-04-30
Succinct dynamic variation graphs
Eizenga, J. M., Novak, A. M., Kobayashi, E., Villani, F., Cisar, C., Heumos, S., Hickey, G., Colonna, V., Paten, B., Garrison, E.
10.1101/2020.04.23.056317 — Posted: 2020-04-25
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
Nurk, S., Walenz, B. P., Rhie, A., Vollger, M. R., Logsdon, G. A., Grothe, R., Miga, K. H., Eichler, E. E., Phillippy, A. M., Koren, S.
10.1101/2020.03.14.992248 — Posted: 2020-03-19

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