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
Comprehensive perturbation of transcription factors in human cardiomyocytes reveals the regulatory architecture of congenital heart disease
Takeuchi, C., Sivakumar, S., Sundarrajan, A., Wang, Y., Goetsch, S. C., Zhao, H., Wang, L., Nzima, M., Deng, M., Kulkarni, K. N., Xu, L., Wu, J., Posner, B. A., Chahrour, M. H., Kraus, W. L., Munshi, N. V., Hon, G. C.
10.64898/2025.12.15.694070 — Posted: 2026-01-05
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
SEEK-VEC: Robust Latent Structure Discovery via Ensemble Topic Modeling
Danning, R., Ke, Z. T., Ma, R., Lin, X.
10.64898/2025.12.12.693799 — Posted: 2025-12-14
Determining gene specificity from multivariate single-cell RNA sequencing data
Swarna, N. P., Booeshaghi, A. S., Rebboah, E., Gordon, M. G., Kathail, P., Li, T., Alvarez, M., Ye, C. J., Wold, B. J., Mortazavi, A., Pachter, L.
10.1101/2025.11.21.689845 — Posted: 2025-11-24

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