Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

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
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
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
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
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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