Channel:  Human Pangenome Reference Consortium (HPRC)

102 Articles

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The Transcription Factor Bach2 Negatively Regulates Natural Killer Cell Maturation and Function
Li, S., Bern, M., Miao, B., Inoue, T., Piersma, S. J., Colonna, M., Kurosaki, T., Yokoyama, W. M.
10.1101/2022.02.14.480364 — Posted: 2022-02-14
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
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
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
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
LungMAP Portal Ecosystem: Systems-Level Exploration of the Lung
Gaddis, N., Fortriede, J., Guo, M., Bardes, E. E., Kouril, M., Tabar, S., Burns, K., Ardini-Poleske, M. E., Loos, S., Schnell, D., Jin, K., Iyer, B., Du, Y., Korte, J., Munshi, R., Smith, V., Herbst, A., Kitzmiller, J. A., Clair, G. C., Carson, J., Adkins, J., Morrisey, E. E., Pryhuber, G. S., Misra, R., Whitsett, J. A., Sun, X., Heathorn, T., Paten, B., Prasath, V. B. S., Xu, Y., Tickle, T., Aronow, B. J., Salomonis, N.
10.1101/2021.12.05.471312 — Posted: 2021-12-06
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

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