Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Evidence for G6PD variant classification from multiplexed functional assays
Geck, R. C., Wheelock, M. K., Powell, R. L., Wang, Z. R., Holmes, D. L., Fayer, S., Boyle, G. E., Vandi, A. J., McGee, A. V., Amorosi, C. J., Moore, N., Rubin, A. F., Fowler, D. M., Dunham, M. J.
10.1101/2025.08.11.669723 — Posted: 2025-11-22
Systematic and proactive evaluation of AIRE missense variant effects
Axakova, A., Berger, A. H., van Loggerenberg, W., Kishore, N., Gebbia, M., Ding, M. X., Douville, S. V., Tabet, D. R., Cote, A. G., Weile, J., Johansson, S., Bratland, E., Roth, F. P.
10.1101/2025.11.18.688830 — Posted: 2025-11-18
Characterizing spatial functional microniches with SpaceTravLR
Ramjattun, K., Wang, A., Lee, H., Giri, S., Chen, Y., MacDonald, W. A., Lord, N., Poholek, A. C., Lee, Y., Das, J.
10.1101/2025.11.13.688264 — Posted: 2025-11-14
Deep learning the cis-regulatory code of chromatin dynamics during cellular reprogramming
Nair, S., Ameen, M., Sundaram, L., Pampari, A., Schreiber, J., Balsubramani, A., Wang, Y. X., Burns, D., Blau, H. M., Karakikes, I., Wang, K. C., Kundaje, A.
10.1101/2023.10.04.560808 — Posted: 2025-11-11
Monod: model-based discovery and integration through fitting stochastic transcriptional dynamics to single-cell sequencing data
Gorin, G., Chari, T., Carilli, M., Vastola, J. J., Pachter, L.
10.1101/2022.06.11.495771 — Posted: 2025-11-06
Large-scale discovery of neural enhancers for cis-regulation therapies
McDiarmid, T. A., Page, N. F., Chardon, F. M., Daza, R. M., Chen, G. T., Kosicki, M., James, L. M., Nourie, H. C., Laboy-Cintron, D., Lee, A. S., Vij, P., Calderon, D., Lalanne, J.-B., Martin, B. K., Fink, K., Talkowski, M. E., Muotri, A. R., Philpot, B. D., Pennacchio, L. A., Geschwind, D. H., Sanders, S. J., Ahituv, N., Shendure, J.
10.1101/2025.11.04.686611 — Posted: 2025-11-05
NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease
Nazeen, S., Wang, X., Morrow, A., Strom, R., Ethier, E., Ritter, D., Henderson, A., Afroz, J., Cassa, C. S., Stitziel, N. O., Gupta, R. M., Luk, K., Studer, L., Khurana, V., Sunyaev, S. R.
10.1101/2025.01.07.631688 — Posted: 2025-10-16
Deep learning the dynamic regulatory sequence code of cardiac organoid differentiation
Metzl-Raz, E., Zhao, R., Deshpande, S., Powell, J., Porter, E. G., Zouaghi, Y., Liu, B. B., Kim, S. H., Abdi, I., Evergreen, I., Agarwal, M., Sheth, M. U., Rico, J., Miyamoto, M., Sanchez, J. M., Engreitz, J. M., Kundaje, A., Greenleaf, W. J., Gifford, C. A.
10.1101/2025.10.15.680997 — Posted: 2025-10-15
RELB Reprograms Exhausted Tumor-Infiltrating Lymphocytes for Improved Adoptive Cell Therapy
McRoberts Amador, C. D., Conover, R. E., Brown, M. C., Lyniv, L. S., Noldner, P. K., Zhou, Y., Gao, A. R., McCutcheon, S. R., Antonia, S. J., Gersbach, C. A.
10.1101/2025.10.11.681829 — Posted: 2025-10-12
Comprehensive profiling of transcription factors for reprogramming human astrocytes to neuronal cells through endogenous CRISPR-based gene activation
Reisman, S. J., Halabi, D., Miller, S. E., Song, L., Geraghty, S., Sangvai, N., Rice, G., Safi, A., Crawford, G. E., Gersbach, C. A.
10.1101/2025.10.11.681828 — Posted: 2025-10-12

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