Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Single-Cell Genomics Decontamination with CellSweep
Caskey, M., Rich, J., Weber, R., Mortazavi, A., Pachter, L., Hallgrimsdottir, I. B.
10.64898/2026.03.04.709349 — Posted: 2026-03-06
Massive-scale single-nucleus multi-omics identifies novel rare noncoding drivers of Parkinson's disease
Menon, S., Turner, A. W., Chang, S. H., Johnson, A. W., Chang, H. H., Shah, A. J., Zeng, Y., Strohlein, C. E., Kampman, L., Colston, C., Kozlenkov, A., Dracheva, S., Avenali, M., Palermo, G., Ceravolo, R., Valente, E. M., Gabbert, C., Trinh, J., Serrano, G. E., Beach, T. G., Global Parkinson's Genetic Program (GP2), , Shulman, J. M., Blauwendraat, C., Montine, T. J., Fang, Z.-H., Belloy, M. E., Corces, M. R.
10.64898/2026.03.05.709922 — Posted: 2026-03-05
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
Estimating cis and trans contributions todifferences in gene regulation
Hallgrimsdottir, I. B., Carilli, M., Pachter, L.
10.1101/2024.07.13.603403 — Posted: 2026-02-18
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
Short-Context Regulatory DNA Language Models with Motif-Discovery Regularization
Patel, A., Kundaje, A.
10.64898/2026.02.05.703637 — Posted: 2026-02-11
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

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