Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

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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
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
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
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
cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions
Van Buren, E., Zhang, Y., Li, X., Selvaraj, M. S., Li, Z., Zhou, H., Palmer, N. D., Arnett, D. K., Blangero, J., Boerwinkle, E., Cade, B. E., Carlson, J. C., Carson, A. P., Chen, Y.-D. I., Curran, J., Duggirala, R., Fornage, M., Franceschini, N., Graff, M., Gu, C., Guo, X., He, J., Heard-Cosa, N., Hou, L., Hung, Y.-J., Kalyani, R. R., Kardia, S. L. R., Kooperberg, C., Kral, B. G., Lange, L., Li, C., Liu, S., Lloyd-Jones, D., Loos, R. J. F., Manichaikul, A. W., Martin, L. W., Mathias, R., Minster, R., Mitchell, B. D., Mychaleckyj, J. C., Naseri, T., North, K., O'Connell, J., Perry, J. A., Peyse
10.1101/2025.04.23.650307 — Posted: 2025-04-26

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