Channel:  Impact of Genomic Variation on Function (IGVF)

145 Articles

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
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
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
A scalable approach to resolving variants of uncertain significance
Tejura, M., Chen, Y., McEwen, A. E., Stewart, R., Sverchkov, Y., Laval, F., Woo, I., Zeiberg, D., Shen, R., Fayer, S., Stone, J., Smith, N., Casadei, S., Wang, Z. R., Snyder, M., Capodanno, B. J., Gupta, P., Benazouz, M., Jain, S., Heidl, S., Muffley, L., Dong, S., Lin, K., Hitz, B. C., Gabdank, I., Da, E. Y., Best, S., Grindstaff, S., Reinhart, D., Rodriguez-Salas, L., Seid, O., Vandi, A. J., Wenman, C., Wheelock, M. K., Pendyala, S., Holmes, D., Xu, A., Hosokai, A., Tixhon, M., Reno, C., Ewald, J. D., Spirohn-Fitzgerald, K., Teelucksingh, T., Hao, T., Chen, Z. S., Haghighi, M., Hamid, A. K.
10.64898/2026.02.14.705848 — Posted: 2026-02-23
Gene-based calibration of high-throughput functional assays for clinical variant classification
Zeiberg, D., Stewart, R. C., Jain, S., Tejura, M., McEwen, A. E., Fayer, S., Sverchkov, Y., Craven, M., Pejaver, V., Rubin, A. F., Starita, L. M., Fowler, D. M., O'Donnell-Luria, A., Radivojac, P.
10.1101/2025.04.29.651326 — Posted: 2026-02-16
Predicting interaction-specific protein-protein interaction perturbations by missense variants with MutPred-PPI
Stewart, R., Laval, F., Coppin, G., Spirohn-Fitzgerald, K., Tixhon, M., Hao, T., Calderwood, M. A., Mort, M., Cooper, D. N., Vidal, M., Radivojac, P.
10.64898/2025.12.20.695738 — Posted: 2026-02-12
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Biar, C. G., Wang, Z. R., Camp, N. D., Holmes, D. L., Wheelock, M. K., Pendyala, S., McGee, A. V., Gupta, P., McEwen, A. E., Tejura, M., Richardson, M. E., Weyandt, J. D., Coleman, T., Stewart, R., Zeiberg, D., Vandi, A. J., Dawson, S., Radivojac, P., Starita, L. M., Carvill, G. L., James, R. G., Fowler, D. M., Calhoun, J. D.
10.64898/2026.01.16.699909 — Posted: 2026-01-18
Deriving genetic codes for molecular phenotypes from first principles
Bhate, S. S., Seigal, A., Caicedo, J.
10.1101/2022.08.15.503769 — Posted: 2026-01-10
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

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