Channel:  Human Pangenome Reference Consortium (HPRC)

158 Articles

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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
lra: the Long Read Aligner for Sequences and Contigs
Ren, J., Chaisson, M.
10.1101/2020.11.15.383273 — Posted: 2020-11-17
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

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