Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

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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
Compensatory Plasticity Defines a Vulnerable Neuronal State in Alzheimers Disease with Psychosis
Victor, M. B., Sun, N., Galani, K., Leary, N., Tanigawa, Y., Scannail, A. N., Ho, L.-L., Prosper, S., Liu, L., Kofler, J. K., Sweet, R., Tsai, L.-H., Kellis, M.
10.1101/2025.04.30.651435 — Posted: 2026-01-06
High false sign rates in transcriptome-wide association studies
Gerlach, P. A., Milind, N., Spence, J. P., Pritchard, J. K.
10.64898/2025.12.19.695550 — Posted: 2025-12-20
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
Characterizing spatial functional microniches with SpaceTravLR
Ramjattun, K., Wang, A., Lee, H., Giri, S., Chen, Y., MacDonald, W. A., Lord, N., Poholek, A. C., Lee, Y., Das, J.
10.1101/2025.11.13.688264 — Posted: 2025-11-14

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