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

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
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

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