Channel:  Human Pangenome Reference Consortium (HPRC)

171 Articles

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
Regulatory Transposable Elements in the Encyclopedia of DNA Elements
Du, A. Y., Chobirko, J. D., Zhuo, X., Feschotte, C., Wang, T.
10.1101/2023.09.05.556380 — Posted: 2023-09-06
Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS
Ozturk, K., Panwala, R., Sheen, J., Ford, K., Payne, N., Zhang, D.-E., Hutter, S., Haferlach, T., Ideker, T., Mali, P., Carter, H.
10.1101/2023.08.03.551876 — Posted: 2023-08-04
ChromaFold predicts the 3D contact map from single-cell chromatin accessibility
Gao, V. R., Yang, R., Das, A., Luo, R., Luo, H., McNally, D. R., Karagiannidis, I., Rivas, M. A., Wang, Z.-m., Barisic, D., Karbalayghareh, A., Wong, W., Zhan, Y., Chin, C. R., Noble, W. S., Bilmes, J. A., Apostolou, E., Kharas, M., Beguelin, W., Viny, A. D., Huangfu, D., Rudensky, A., Melnick, A., Leslie, C. S.
10.1101/2023.07.27.550836 — Posted: 2023-07-28
Integrative epigenomic and functional characterization assay based annotation of regulatory activity across diverse human cell types
Dincer, T. U., Ernst, J.
10.1101/2023.07.14.549056 — Posted: 2023-07-15
The complete sequence of a human Y chromosome
Rhie, A., Nurk, S., Cechova, M., Hoyt, S. J., Taylor, D. J., Altemose, N., Hook, P. W., Koren, S., Rautiainen, M., Alexandrov, I. A., Allen, J., Asri, M., Bzikadze, A. V., Chen, N.-C., Chin, C.-S., Diekhans, M., Flicek, P., Formenti, G., Fungtammasan, A., Garcia Giron, C., Garrison, E., Gershman, A., Gerton, J., Grady, P. G., Guarracino, A., Haggerty, L., Halabian, R., Hansen, N. F., Harris, R., Hartley, G. A., Harvey, W. T., Haukness, M., Heinz, J., Hourlier, T., Hubley, R. M., Hunt, S. E., Hwang, S., Jain, M., Kesharwani, R. K., Lewis, A. P., Li, H., Logsdon, G. A., Lucas, J. K., Makalowski
10.1101/2022.12.01.518724 — Posted: 2023-07-11

RSS  Channel RSS