Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Capture-C MPRA: A high-throughput method to simultaneously characterize promoter interactions and regulatory activity
Arnould, C., Keukeleire, P., Inoue, F., Cui, X., An, K., Murray, E., Zhang, X., Drmanac, R., Peters, B., Shendure, J., Shen, Y., Kircher, M., Ahituv, N.
10.1101/2025.06.11.658967 — Posted: 2025-06-14
Dogme: A nextflow pipeline for reprocessing nanopore RNA and DNA modifications
Abdollahzadeh, E., Mortazavi, A.
10.1101/2025.06.04.657941 — Posted: 2025-06-11
Robust self-supervised machine learning for single cell embeddings and annotations
Yeh, C. Y., Sun, M. W., Zhu, D., Jerby, L.
10.1101/2025.06.05.658097 — Posted: 2025-06-08
Focus on single gene effects limits discovery and interpretation of complex trait-associated variants
Lawrence, K. A., Gjorgjieva, T., Montgomery, S. B.
10.1101/2025.06.06.658175 — Posted: 2025-06-06
Vascular smooth muscle cell atherosclerosis trajectories characterized at single cell resolution identify causal transcriptomic and epigenomic mechanisms of disease risk
Li, D. Y., Kundu, S., Cheng, P., Gu, W., Jackson, W. R., Zhao, Q., Nguyen, T., Worssam, M., Monteiro, J. P., Caceres, R. D., Dale, S., Palmisano, B., Weldy, C. S., Kundu, R., Wirka, R. C., Quertermous, T.
10.1101/2025.06.04.655863 — Posted: 2025-06-06
Cell modeling and rescue of a novel non-coding genetic cause of Glycogen Storage Disease IX
Iyengar, A. K., Zou, X., Dai, J., Francis, R. A., Safi, A., Patterson, K., Koch, R. L., Clarke, S., Beaman, M. M., Chong, J. X., Bamshad, M. J., Majoros, W. H., Rehder, R. C., Bali, D. S., Allen, A. S., Crawford, G. E., Kishnani, P. S., Reddy, T. E.
10.1101/2025.05.14.654043 — Posted: 2025-05-17
Developing a general AI model for integrating diverse genomic modalities and comprehensive genomic knowledge
Zhang, Z., Bao, X., Jiang, L., Luo, X., Wang, Y., Comai, A., Waldhaus, J., Hansen, A. S., Li, W., Liu, J.
10.1101/2025.05.08.652986 — Posted: 2025-05-14
Pseudoassembly of k-mers
Sullivan, D. K., Boffelli, M., Pachter, L.
10.1101/2025.05.11.653354 — Posted: 2025-05-13
Enhancer-driven regulatory network of forebrain human development provides insights into autism
Jourdon, A., Mariani, J., Natu, A., Wu, F., Li, B., Capauto, D., Hagy, K. T., Norton, S., Tomasini, L., Safi, A., Amiri, A., Schreiner, J., Nguyen, C. K., Nolan, N., Nelson, M. P., Ramos, D. M., Ward, M. E. E., Szekely, A., McPartland, J. C., Pelphrey, K., Ventola, P., Chawarska, K., Gersbach, C. A., Crawford, G. E., Abyzov, A., Vaccarino, F. M.
10.1101/2023.09.06.555206 — Posted: 2025-05-11
The epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk loci
Weldy, C. S., Kundu, S., Monteiro, J. P., Gu, W., Pedroza, A. J., Dalal, A. R., Worssam, M. D., Li, D. Y., Palmisano, B. T., Zhao, Q., Sharma, D., Nguyen, T., Kundu, R. K., Fischbein, M. P., Engreitz, J., Kundaje, A. B., Cheng, P. P., Quertermous, T.
10.1101/2022.05.18.492517 — Posted: 2025-05-06

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