Channel:  Human Pangenome Reference Consortium (HPRC)

102 Articles

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Characterizing cytosine methylation of polymorphic human transposable element insertions using human pangenome resources
Zhuo, X., Tomlinson, C., Belter, E. A., Kuntala, P. K., Saintilnord, W. N., Lindsay, T., Macias, J., Fulton, R. S., Wang, T.
10.1101/2024.11.22.623804 — Posted: 2024-11-23
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
Building pangenome graphs
Garrison, E., Guarracino, A., Heumos, S., Villani, F., Bao, Z., Tattini, L., Hagmann, J., Vorbrugg, S., Marco-Sola, S., Kubica, C., Ashbrook, D. G., Thorell, K., Rusholme-Pilcher, R. L., Liti, G., Rudbeck, E., Nahnsen, S., Yang, Z., Mwaniki, M. N., Nobrega, F. L., Wu, Y., Chen, H., de Ligt, J., Sudmant, P. H., Soranzo, N., Colonna, V., Williams, R. W., Prins, P.
10.1101/2023.04.05.535718 — Posted: 2024-10-02
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
Structural polymorphism and diversity of human segmental duplications
Jeong, H., Dishuck, P. C., Yoo, D., Harvey, W. T., Munson, K. M., Lewis, A. P., Kordosky, J., Garcia, G. H., Human Genome Structural Variation Consortium (HGSVC), , Yilmaz, F., Hallast, P., Lee, C., Pastinen, T., Eichler, E. E.
10.1101/2024.06.04.597452 — Posted: 2024-06-06
BAllC and BAllCools: Efficient Formatting and Operating for Single-Cell DNA Methylation Data
Tian, W., Ding, W., Shen, J., Li, D., Wang, T., Ecker, J. R.
10.1101/2023.09.22.559047 — Posted: 2024-05-15

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