Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

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
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
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
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
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
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
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
Genome-scale mapping of variant, enhancer and gene function in primary human CD4+ T cells
Moonen, D. P., Claringbould, A., Gschwind, A. R., Schrod, S., Braunger, J., Feng, C., Rauscher, B., Yi, J., Bi, S. Z., Matthess, Y., Kaulich, M., Acob, R. A., Ayer, A., Engreitz, J. M., Velten, B., Stegle, O., Trynka, G., Zaugg, J. B., Schraivogel, D., Steinmetz, L. M.
10.64898/2026.03.09.710372 — Posted: 2026-03-11
Reprogramming of neuronal genome function and phenotype by astrocytes
Li, B., Hagy, K., Safi, A., Beer, M. A., Barrera, A., Geraghty, S., Rai, R., Pederson, A. N., Reisman, S. J., Love, M. I., Sullivan, P. F., Eroglu, C., Crawford, G. E., Gersbach, C. A.
10.64898/2026.03.07.710282 — Posted: 2026-03-07

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