Channel:  Human Pangenome Reference Consortium (HPRC)

166 Articles

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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
The complete human diploid reference genome of RPE-1 identifies the phased epigenetic landscapes from multi-omics data
Volpe, E., Corda, L., Di Tommaso, E., Pelliccia, F., Ottalevi, R., Licastro, D., Guarracino, A., Capulli, M., Formenti, G., Tassone, E., Giunta, S.
10.1101/2023.11.01.565049 — Posted: 2023-12-30
Personalized Pangenome References
Siren, J., Eskandar, P., Ungaro, M. T., Hickey, G., Eizenga, J. M., Novak, A. M., Chang, X., Chang, P.-C., Kolmogorov, M., Carroll, A., Monlong, J., Paten, B.
10.1101/2023.12.13.571553 — Posted: 2023-12-15
Neotelomeres and Telomere-Spanning Chromosomal Arm Fusions in Cancer Genomes Revealed by Long-Read Sequencing
Tan, K.-T., Slevin, M. K., Leibowitz, M. L., Garrity-Janger, M., Li, H., Meyerson, M.
10.1101/2023.11.30.569101 — Posted: 2023-12-01
Decoding Heterogenous Single-cell Perturbation Responses
Song, B., Liu, D., Dai, W., McMyn, N., Wang, Q., Yang, D., Krejci, A., Vasilyev, A., Untermoser, N., Loregger, A., Song, D., Williams, B., Rosen, B., Cheng, X., Chao, L., Kale, H. T., Zhang, H., Diao, Y., Bürckstümmer, T., Siliciano, J. M., Li, J. J., Siliciano, R., Huangfu, D., Li, W.
10.1101/2023.10.30.564796 — Posted: 2023-11-29
An encyclopedia of enhancer-gene regulatory interactions in the human genome
Gschwind, A. R., Mualim, K. S., Karbalayghareh, A., Sheth, M. U., Dey, K. K., Jagoda, E., Nurtdinov, R. N., Xi, W., Tan, A. S., Jones, H., Ma, X. R., Yao, D., Nasser, J., Avsec, Z., James, B. T., Shamim, M. S., Durand, N. C., Rao, S. S. P., Mahajan, R., Doughty, B. R., Andreeva, K., Ulirsch, J. C., Fan, K., Perez, E. M., Nguyen, T. C., Kelley, D. R., Finucane, H. K., Moore, J. E., Weng, Z., Kellis, M., Bassik, M. C., Price, A. L., Beer, M. A., Guigo, R., Stamatoyannopoulos, J. A., Aiden, E. L., Greenleaf, W. J., Leslie, C. S., Steinmetz, L. M., Kundaje, A., Engreitz, J. M.
10.1101/2023.11.09.563812 — Posted: 2023-11-13
ntsm: an alignment-free, ultra low coverage, sequencing technology agnostic, intraspecies sample comparison tool for sample swap detection
Chu, J., Rong, J., Feng, X., Li, H.
10.1101/2023.11.01.565041 — Posted: 2023-11-03
KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mers
Meng, Q., Ji, H. P., Lee, H.
10.1101/2023.10.11.561941 — Posted: 2023-10-15
5-hydroxymethylcytosines regulate gene expression as a passive DNA demethylation resisting epigenetic mark in proliferative somatic cells
Wei, A., Zhang, H., Qiu, Q., Fabyanic, E. B., Hu, P., Wu, H.
10.1101/2023.09.26.559662 — Posted: 2023-09-27
Local read haplotagging enables accurate long-read small variant calling
Kolesnikov, A., Cook, D. E., Nattestad, M., Ashley, E. A., Gorzynski, J., Goenka, S. D., Jain, M., McNulty, B., Miga, K. H., Paten, B., Chang, P.-C., Carroll, A., Shafin, K.
10.1101/2023.09.07.556731 — Posted: 2023-09-12

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