Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Decoding Chromatin Dynamics in Cardiac Organoids Reveals Genetic Drivers of Human Heart Development and Disease
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: 2026-04-23
The landscape of regional missense mutational intolerance quantified from 730,947 exomes
Wang, L., Chao, K. R., Panchal, R., Liao, C., Abderrazzaq, H., Ye, R., Schultz, P., Compitello, J., Grant, R. H., Kosmicki, J. A., Weisburd, B., Phu, W., Wilson, M. W., Laricchia, K. M., Goodrich, J. K., Goldstein, D., Goldstein, J. I., Vittal, C., Poterba, T., Baxter, S., Watts, N. A., Solomonson, M., gnomAD consortium, , Tiao, G., Rehm, H. L., Neale, B. M., Talkowski, M. E., MacArthur, D. G., O'Donnell-Luria, A., Karczewski, K. J., Radivojac, P., Daly, M. J., Samocha, K. E.
10.1101/2024.04.11.588920 — Posted: 2026-04-23
Federated single-cell QTL meta-analysis reveals novel disease mechanisms
Kaptijn, D., Michielsen, L., Neavin, D., Ripoll-Cladellas, A., Alquicira-Hernandez, J. E., Korshevniuk, M., Lee, J. T. H., Oelen, R., Vochteloo, M., Warmerdam, R., Ando, Y., Ban, M., Bayaraa, O., Berg, M., van Blokland, I., Considine, D., Dieng, M. M., Edahiro, R., Gordon, M. G., Groot, H. E., van der Harst, P., Heinig, M., Hon, C.-C., Idaghdour, Y., Kathail, P., de Klein, N., Li, W., Li, Y., Losert, C., Manikanda, V., Moody, J., Naeem, H., Mokrab, Y., Nawijn, M. C., Netea, M., Niewold, J., Okada, Y., Sawcer, S., Soulama, I., Stegle, O., Tsepilov, Y., Park, W.-Y., Rajagopalan, D., Shahin, T.
10.64898/2026.01.20.700519 — Posted: 2026-04-14
Hybrid crosses reveal a cell-type-specific landscape of mouse regulatory variation
Weber, R., Carilli, M., Rebboah, E., Filimban, G., Liang, H. Y., Trout, D., Duffield, M., Mahdipoor, P., Taghizadeh, E., Fattahi, N., Mojaverzargar, R., Kawauchi, S., Williams, B. A., MacGregor, G., Wold, B., Pachter, L., Hallgrimsdottir, I. B., Mortazavi, A.
10.64898/2026.04.02.716195 — Posted: 2026-04-04
High-throughput biochemical phenotyping of SHP2 variants reveals the molecular basis of diseases and allosteric drug inhibition
Lee, A. A., Mokhtari, D. A., Egan, E. D., Blacklow, S. C., Herschlag, D., Fordyce, P. M.
10.64898/2026.03.30.715055 — Posted: 2026-04-02
Modeling gene regulatory perturbations via deep learning from high-throughput reporter assays
Venukuttan, R., Doty, R., Thomson, A., Chen, Y., Li, B., Duan, Y., Barrera, A., Dura, K., Ko, K.-Y., Lapp, H., Reddy, T. E., Allen, A. S., Majoros, W. H.
10.64898/2026.03.27.714770 — Posted: 2026-03-31
Structured Pooling Improves Detection of Rare Regulatory Mutations in Population-Scale Reporter Assays
Dura, K., Siklenka, K., Strouse, K. P., Morrow, S., Zhang, C., Barrera, A., Allen, A. S., Reddy, T. E., Majoros, W. H.
10.64898/2026.03.27.714794 — Posted: 2026-03-31
Gene- and domain-aware calibration increases the clinical utility of variant effect predictors
Chen, Y., Fayer, S., Jain, S., Benazouz, M., Sverchkov, Y., Stone, J., Sharma, H., Bergquist, T., Stewart, R., Mooney, S. D., Craven, M., Radivojac, P., Starita, L. M., Fowler, D. M., Pejaver, V.
10.64898/2026.02.17.706269 — Posted: 2026-03-31
A graph-based learning approach to predict the effects of gene perturbations on molecular phenotypes
Jin, Y., Sverchkov, Y., Sushkova, A., Ohtake, M., Emfinger, C., Craven, M.
10.64898/2026.03.20.712202 — Posted: 2026-03-25
Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα
Zevounou, J., Lo, K. S., McGinnis, C. S., Satpathy, A. T., Lettre, G.
10.64898/2026.03.13.711357 — Posted: 2026-03-16

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