Channel:  Human Pangenome Reference Consortium (HPRC)

158 Articles

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Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence and sex information
Li, R., Ernst, J.
10.1101/2024.03.20.585624 — Posted: 2024-03-21
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
Koren, S., Bao, Z., Guarracino, A., Ou, S., Goodwin, S., Jenike, K. M., Lucas, J., McNulty, B., Park, J., Rautianinen, M., Rhie, A., Roelofs, D., Schneiders, H., Vrijenhoek, I., Nijbroek, K., Ware, D., Schatz, M. C., Garrison, E., Huang, S., McCombie, W. R., Miga, K. H., Wittenberg, A. H. J., Phillippy, A. M.
10.1101/2024.03.15.585294 — Posted: 2024-03-19
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

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