Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
Kobren, S. N., Moldovan, M. A., Reimers, R., Traviglia, D., Li, X., Barnum, D., Veit, A., Corona, R. I., Carvalho, G. d. V., Willett, J., Berselli, M., Ronchetti, W., Nelson, S. F., Martinez-Agosto, J. A., Sherwood, R., Krier, J., Kohane, I. S., Undiagnosed Diseases Network, , Sunyaev, S. R.
10.1101/2024.02.13.580158 — Posted: 2024-08-13
Cohesin-mediated 3D contacts tune enhancer-promoter regulation
Guckelberger, P., Doughty, B. R., Munson, G., Rao, S. S. P., Tan, Y., Cai, X. S., Fulco, C. P., Nasser, J., Mualim, K. S., Bergman, D. T., Ray, J., Jagoda, E., Munger, C. J., Gschwind, A. R., Sheth, M. U., Tan, A. S., Pulido, S. G., Mitra, N., Weisz, D., Shamim, M. S., Durand, N. C., Mahajan, R., Khan, R., Steinmetz, L. M., Kanemaki, M. T., Lander, E. S., Meissner, A., Aiden, E. L., Engreitz, J. M.
10.1101/2024.07.12.603288 — Posted: 2024-07-22
Stochastic Modeling of Biophysical Responses to Perturbation
Chari, T., Gorin, G., Pachter, L.
10.1101/2024.07.04.602131 — Posted: 2024-07-06
Mapping MAVE data for use in human genomics applications
Arbesfeld, J. A., Da, E. Y., Stevenson, J. S., Kuzma, K., Paul, A., Farris, T., Capodanno, B. J., Grindstaff, S. B., Riehle, K., Agostinho, N. D. S., Safer, J. F., Milosavljevic, A., Foreman, J., Firth, H. V., Hunt, S. E., Iqbal, S., Cline, M., Rubin, A. F., Wagner, A. H.
10.1101/2023.06.20.545702 — Posted: 2024-06-30
CRISPR Screening Uncovers a Long-Range Enhancer for ONECUT1 in Pancreatic Differentiation and Links a Diabetes Risk Variant
Kaplan, S. J., Wong, W., Yan, J., Pulecio, J., Cho, H., Leslie-Iyer, J., Kazakov, J., Zhao, J., Li, Q., Murphy, D., Luo, R., Dey, K. K., Apostolou, E., Lesie, C. S., Huangfu, D.
10.1101/2024.04.26.591412 — Posted: 2024-06-28
A model for accurate quantification of CRISPR effects in pooled FACS screens
Pimentel, H., Freimer, J., Arce, M. M., Garrido, C. M., Marson, A., Pritchard, J. K.
10.1101/2024.06.17.599448 — Posted: 2024-06-18
Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
Jain, S., Trinidad, M., Nguyen, T. B., Jones, K., Diaz Neto, S., Ge, F., Glagovsky, A., Jones, C., Moran, G., Wang, B., Rahimi, K., Zeynep Calici, S., Cedillo, L. R., Berardelli, S., Ozden, B., Chen, K., Katsonis, P., Williams, A., Lichtarge, O., Rana, S., Pradhan, S., Srinivasan, R., Sajeed, R., Joshi, D., Faraggi, E., Jernigan, R., Kloczkowski, A., Xu, J., Song, Z., Ozkan, S., Padilla, N., de la Cruz, X., Acuna-Hidalgo, R., Grafmuller, A., Jimenez Barron, L. T., Manfredi, M., Savojardo, C., Babbi, G., Martelli, P. L., Casadio, R., Sun, Y., Zhu, S., Shen, Y., Pucci, F., Rooman, M., Cia, G., R
10.1101/2024.05.16.594558 — Posted: 2024-06-17
Critical assessment of missense variant effect predictors on disease-relevant variant data
Rastogi, R., Chung, R., Li, S., Li, C., Lee, K., Woo, J., Kim, D.-W., Keum, C., Babbi, G., Martelli, P. L., Savojardo, C., Casadio, R., Chennen, K., Weber, T., Poch, O., Ancien, F., Cia, G., Pucci, F., Raimondi, D., Vranken, W., Rooman, M., Marquet, C., Olenyi, T., Rost, B., Andreoletti, G., Kamandula, A., Peng, Y., Bakolitsa, C., Mort, M., Cooper, D. N., Bergquist, T., Pejaver, V., Liu, X., Radivojac, P., Brenner, S. E., Ioannidis, N. M.
10.1101/2024.06.06.597828 — Posted: 2024-06-08
A Regularized Bayesian Dirichlet-multinomial Regression Model for Integrating Single-cell-level Omics and Patient-level Clinical Study Data
Guo, Y., Yu, L., Guo, L., Xu, L., Li, Q.
10.1101/2024.06.04.597391 — Posted: 2024-06-06
Reproducible single cell annotation of programs underlying T-cell subsets, activation states, and functions
Kotliar, D., Curtis, M., Agnew, R., Weinand, K., Nathan, A., Baglaenko, Y., Zhao, Y., Sabeti, P. C., Rao, D. A., Raychaudhuri, S.
10.1101/2024.05.03.592310 — Posted: 2024-05-05

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