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.

67 Articles

Genotyping sequence-resolved copy-number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
Ma, W., Chaisson, M.
10.1101/2024.08.11.607269 — Posted: 2024-10-24
Telomere-to-Telomere Phased Genome Assembly Using HERRO-Corrected Simplex Nanopore Reads
Stanojevic, D., Lin, D., Nurk, S., Florez De Sessions, P., Sikic, M.
10.1101/2024.05.18.594796 — Posted: 2024-10-15
SAFARI: Pangenome Alignment of Ancient DNA Using Purine/Pyrimidine Encodings
Rubin, J. D., van Waaij, J., Kraft, L. M., Siren, J., Sackett, P. W., Renaud, G.
10.1101/2024.08.12.607489 — Posted: 2024-10-08
Highly accurate assembly polishing with DeepPolisher
Mastoras, M., Asri, M., Brambrink, L., Hebbar, P., Kolesnikov, A., Cook, D. E., Nattestad, M., Lucas, J., Won, T. S., Chang, P.-C., Carroll, A., Paten, B., Shafin, K.
10.1101/2024.09.17.613505 — Posted: 2024-09-19
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi, S., Stenton, S. L., Berger, S., McNulty, B., Violich, I., Gardner, J., Hillaker, T., O'Rourke, S. M., O'Leary, M. C., Carbonell, E., Austin-Tse, C., Lemire, G., Serrano, J., Mangilog, B., VanNoy, G., Kolmogorov, M., Vilain, E., O'Donnell-Luria, A., Delot, E., Miga, K. H., Monlong, J., Paten, B.
10.1101/2024.08.22.24312327 — Posted: 2024-08-22
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies
Park, J., Cook, D. E., Chang, P.-C., Kolesnikov, A., Brambrink, L., Mier, J. C., Gardner, J., McNulty, B., Sacco, S., Keskus, A., Bryant, A., Ahmad, T., Shetty, J., Zhao, Y., Tran, B., Narzisi, G., Helland, A., Yoo, B., Pushel, I., Lansdon, L. A., Bi, C., Walter, A., Gibson, M., Pastinen, T., Farooqi, M. S., Robine, N., Miga, K. H., Carroll, A., Kolmogorov, M., Paten, B., Shafin, K.
10.1101/2024.08.16.608331 — Posted: 2024-08-19
Panacus: fast and exact pangenome growth and core size estimation
Parmigiani, L., Garrison, E., Stoye, J., Marschall, T., Doerr, D.
10.1101/2024.06.11.598418 — Posted: 2024-06-12
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
Keskus, A., Bryant, A., Ahmad, T., Yoo, B., Aganezov, S., Goretsky, A., Donmez, A., Lansdon, L. A., Rodriguez, I., Park, J., Liu, Y., Cui, X., Gardner, J., McNulty, B., Sacco, S., Shetty, J., Zhao, Y., Tran, B., Narzisi, G., Helland, A., Cook, D. E., Carroll, A., Chang, P.-C., Kolesnikov, A., Molloy, E. K., Pushel, I., Guest, E., Pastinen, T., Shafin, K., Miga, K. H., Malikic, S., Day, C.-P., Robine, N., Sahinalp, C., Dean, M., Farooqi, M. S., Paten, B., Kolmogorov, M.
10.1101/2024.03.22.24304756 — Posted: 2024-03-26
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
Koren, S., Bao, Z., Guarracino, A., Ou, S., Goodwin, S., Jenike, K. M., Lucas, J., McNulty, B., Park, J., Rautianinen, M., Rhie, A., Roelofs, D., Schneiders, H., Vrijenhoek, I., Nijbroek, K., Ware, D., Schatz, M. C., Garrison, E., Huang, S., McCombie, W. R., Miga, K. H., Wittenberg, A. H. J., Phillippy, A. M.
10.1101/2024.03.15.585294 — Posted: 2024-03-19
Full resolution HLA and KIR genes annotation for human genome assemblies
Zhou, Y., Song, L., Li, H.
10.1101/2024.01.20.576452 — Posted: 2024-01-23

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