Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Ancestry-specific performance of variant effect predictors in clinical variant classification
Hoffing, R., Zeiberg, D., Stenton, S. L., Mort, M., Cooper, D. N., Hahn, M. W., O'Donnell-Luria, A., Ward, L. D., Radivojac, P.
10.64898/2026.02.14.705914 — Posted: 2026-02-17
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
Farm animal evolution demonstrates hidden molecular basis of human traits
Connally, N. J., Sunyaev, S.
10.64898/2026.02.02.703413 — Posted: 2026-02-04
Mismatch tolerance of a gRNA for CRISPR-based gene activation confers broad activity critical for cell reprogramming
Reisman, S. J., Zhu, W., Miller, S. E., Halabi, D., Sangvai, N., Crawford, G. E., Gordan, R., Gersbach, C. A.
10.64898/2026.02.01.703129 — Posted: 2026-02-03
Functional Annotation of the Major Histocompatibility Complex Locus
Bounds, L. R., Barrera, A., ter Weele, M., Liu, S., Wu, E., Li, S., Venukuttan, R., Rai, R., Mu, W., Iglesias, N., Giusti-Rodriguez, P., Reddy, T. E., Li, Y., Gordan, R., Allen, A. S., Love, M. I., Sullivan, P. F., Crawford, G. E., Gersbach, C. A.
10.64898/2026.02.01.703124 — Posted: 2026-02-03
Organ-specific prioritization and annotation of non-coding regulatory variants in the human genome
Zhao, N., Sherpa, R. N., Dong, S., Howcroft, K. B., Boyle, A. P.
10.1101/2023.09.07.556700 — Posted: 2026-01-28
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
3D reconstruction of spatial transcriptomics with spatial pattern enhanced graph convolutional neural network
Tang, C., Zhou, Y., Xiao, X., Dong, L., Yu, L., Li, Q., Xiao, G., Xu, L.
10.64898/2026.01.13.699328 — Posted: 2026-01-14
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

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