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

Haplotype-resolved inversion landscape reveals hotspots of mutational recurrence associated with genomic disorders
Porubsky, D., Höps, W., Ashraf, H., Hsieh, P., Rodriguez-Martin, B., Yilmaz, F., Ebler, J., Hallast, P., Maggiolini, F. A. M., Harvey, W. T., Henning, B., Audano, P. A., Gordon, D. S., Ebert, P., Hasenfeld, P., Benito, E., Zhu, Q., Human Genome Structural Variation Consortium, , Lee, C., Antonacci, F., Steinrücken, M., Beck, C. R., Sanders, A. D., Marschall, T., Eichler, E. E., Korbel, J. O.
10.1101/2021.12.20.472354 — Posted: 2021-12-20
A Complete Pedigree-Based Graph Workflow for Rare Candidate Variant Analysis
Markello, C., Huang, C., Rodriguez, A., Carroll, A., Chang, P.-C., Eizenga, J., Markello, T., Haussler, D., Paten, B.
10.1101/2021.11.24.469912 — Posted: 2021-11-25
Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes
Wagner, J., Olson, N. D., Harris, L., McDaniel, J., Cheng, H., Fungtammasan, A., Hwang, Y.-C., Gupta, R., Wenger, A. M., Rowell, W. J., Khan, Z. M., Farek, J., Zhu, Y., Pisupati, A., Mahmoud, M., Xiao, C., Yoo, B., Sahraeian, S. M. E., Miller, D. E., Jaspez, D., Lorenzo-Salazar, J. M., Munoz-Barrera, A., Rubio-Rodriguez, L. A., Flores, C., Narzisi, G., Evani, U. S., Clarke, W. E., Lee, J., Mason, C. E., Lincoln, S. E., Miga, K. H., Ebbert, M. T., Shumate, A., Li, H., Chin, C.-S., Zook, J. M., Sedlazeck, F. J.
10.1101/2021.06.07.444885 — Posted: 2021-10-01
StainedGlass: Interactive visualization of massive tandem repeat structures with identity heatmaps
Vollger, M. R., Kerpedjiev, P., Phillippy, A. M., Eichler, E. E.
10.1101/2021.08.19.457003 — Posted: 2021-08-21
Complete genomic and epigenetic maps of human centromeres
Altemose, N., Logsdon, G. A., Bzikadze, A. V., Sidhwani, P., Langley, S. A., Caldas, G. V., Hoyt, S. J., Uralsky, L., Ryabov, F. D., Shew, C. J., Sauria, M. E. G., Borchers, M., Gershman, A., Mikheenko, A., Shepelev, V. A., Dvorkina, T., Kunyavskaya, O., Vollger, M. R., Rhie, A., McCartney, A. M., Asri, M., Lorig-Roach, R., Shafin, K., Aganezov, S., Olson, D., Gomes de Lima, L., Potapova, T., Hartley, G. A., Haukness, M., Kerpedjiev, P., Gusev, F., Tigyi, K., Brooks, S., Young, A., Nurk, S., Koren, S., Salama, S. R., Paten, B., Rogaev, E. I., Streets, A., Karpen, G. H., Dernburg, A. F., Sulliv
10.1101/2021.07.12.452052 — Posted: 2021-07-19
CoLoRd: Compressing long reads
Kokot, M., Gudys, A., Li, H., Deorowicz, S.
10.1101/2021.07.17.452767 — Posted: 2021-07-19
Merfin: improved variant filtering and polishing via k-mer validation
Formenti, G., Rhie, A., Walenz, B. P., Thibaud-Nissen, F., Shafin, K., Koren, S., Myers, E. W., Jarvis, E. D., Phillippy, A. M.
10.1101/2021.07.16.452324 — Posted: 2021-07-18
A complete reference genome improves analysis of human genetic variation
Aganezov, S., Yan, S. M., Soto, D. C., Kirsche, M., Zarate, S., Avdeyev, P., Taylor, D. J., Shafin, K., Shumate, A., Xiao, C., Wagner, J., McDaniel, J., Olson, N. D., Sauria, M. E. G., Vollger, M. R., Rhie, A., Meredith, M., Martin, S., Lee, J., Koren, S., Rosenfeld, J., Paten, B., Layer, R., Chin, C.-S., Sedlazeck, F. J., Hansen, N. F., Miller, D. E., Phillippy, A. M., Miga, K. H., McCoy, R. C., Dennis, M. Y., Zook, J. M., Schatz, M. C.
10.1101/2021.07.12.452063 — Posted: 2021-07-13
From telomere to telomere: the transcriptional and epigenetic state of human repeat elements
Hoyt, S. J., Storer, J. M., Hartley, G. A., Grady, P. G. S., Gershman, A., de Lima, L. G., Limouse, C., Halabian, R., Wojenski, L., Rodriguez, M., Altemose, N., Core, L., Gerton, J. L., Makalowski, W., Olson, D., Rosen, J., Smit, A. F. A., Straight, A. F., Vollger, M. R., Wheeler, T., Schatz, M., Eichler, E., Phillippy, A. M., Timp, W., Miga, K. H., O'Neill, R. J.
10.1101/2021.07.12.451456 — Posted: 2021-07-12
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Mc Cartney, A. M., Shafin, K., Alonge, M., Bzikadze, A. V., Formenti, G., Fungtammasan, A., Howe, K., Jain, C., Koren, S., Logsdon, G. A., Miga, K. H., Mikheenko, A., Paten, B., Shumate, A., Soto, D. C., Sovic, I., Wood, J. M., Zook, J. M., Phillippy, A. M., Rhie, A.
10.1101/2021.07.02.450803 — Posted: 2021-07-02

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