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.

50 Articles

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
CoLoRd: Compressing long reads
Kokot, M., Gudys, A., Li, H., Deorowicz, S.
10.1101/2021.07.17.452767 — Posted: 2021-07-19
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
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
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
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
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
Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres
Tan, K.-T., Slevin, M., Meyerson, M., Li, H.
10.1101/2022.01.11.475254 — Posted: 2022-01-12
Improving the time and space complexity of the WFA algorithm and generalizing its scoring
Eizenga, J. M., Paten, B.
10.1101/2022.01.12.476087 — Posted: 2022-01-15
Exploring genomic data coupled with 3D chromatin structures using the WashU Epigenome Browser
Li, D., Purushotham, D., Harrison, J. K., Wang, T.
10.1101/2022.01.18.476849 — Posted: 2022-01-21

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