Channel:  Impact of Genomic Variation on Function (IGVF)

bioRxiv posts many COVID19-related papers. A reminder: they have not been formally peer-reviewed and should not guide health-related behavior or be reported in the press as conclusive.

120 Articles

Pervasive mislocalization of pathogenic coding variants underlying human disorders
Lacoste, J., Haghighi, M., Haider, S., Lin, Z.-Y., Segal, D., Reno, C., Qian, W. W., Xiong, X., Shafqat-Abbasi, H., Ryder, P., Senft, R., Cimini, B., Roth, F., Calderwood, M., Hill, D., Vidal, M., Yi, S., Sahni, N., Peng, J., Gingras, A.-C., Singh, S., Carpenter, A., Taipale, M.
10.1101/2023.09.05.556368 — Posted: 2023-09-05
Voyager: exploratory single-cell genomics data analysis with geospatial statistics
Moses, L., Einarsson, P. H., Jackson, K. C., Luebbert, L., Booeshaghi, A. S., Antonsson, S. E., Bray, N., Melsted, P., Pachter, L.
10.1101/2023.07.20.549945 — Posted: 2023-08-20
A new method for multi-ancestry polygenic prediction improves performance across diverse populations
Zhang, H., Zhan, J., Jin, J., Zhang, J., Lu, W., Zhao, R., Ahearn, T. U., Yu, Z., O'Connell, J., Jiang, Y., Chen, T., Okuhara, D., 23andMe Research Team, , Garcia-Closas, M., Lin, X., Koelsch, B. L., Chatterjee, N.
10.1101/2022.03.24.485519 — Posted: 2023-08-17
Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS
Ozturk, K., Panwala, R., Sheen, J., Ford, K., Payne, N., Zhang, D.-E., Hutter, S., Haferlach, T., Ideker, T., Mali, P., Carter, H.
10.1101/2023.08.03.551876 — Posted: 2023-08-04
ChromaFold predicts the 3D contact map from single-cell chromatin accessibility
Gao, V. R., Yang, R., Das, A., Luo, R., Luo, H., McNally, D. R., Karagiannidis, I., Rivas, M. A., Wang, Z.-m., Barisic, D., Karbalayghareh, A., Wong, W., Zhan, Y., Chin, C. R., Noble, W. S., Bilmes, J. A., Apostolou, E., Kharas, M., Beguelin, W., Viny, A. D., Huangfu, D., Rudensky, A., Melnick, A., Leslie, C. S.
10.1101/2023.07.27.550836 — Posted: 2023-07-28
A machine-readable specification for genomics assays
Booeshaghi, A. S., Chen, X., Pachter, L.
10.1101/2023.03.17.533215 — Posted: 2023-07-18
Integrative epigenomic and functional characterization assay based annotation of regulatory activity across diverse human cell types
Dincer, T. U., Ernst, J.
10.1101/2023.07.14.549056 — Posted: 2023-07-15
Proximity Analysis of Native Proteomes Reveals Interactomes Predictive of Phenotypic Modifiers of Autism and Related Neurodevelopmental Conditions
Gao, Y., Trn, M., Shonai, D., Zhao, J., Soderblom, E. J., Garcia-moreno, S. A., Gersbach, C. A., Wetsel, W. C., Dawson, G., Velmeshev, D., Jiang, Y.-h., Sloofman, L. G., Buxbaum, J., Soderling, S. H.
10.1101/2022.10.06.511211 — Posted: 2023-06-23
Integrating Image and Molecular Profiles for Spatial Transcriptomics Analysis
Jiang, X., Wang, S., Guo, L., Wen, Z., Jia, L., Xu, L., Xiao, G., Li, Q.
10.1101/2023.06.18.545488 — Posted: 2023-06-20
Discovery of Competent Chromatin Regions in Human Embryonic Stem Cells
Pulecio, J., Tayyebi, Z., Liu, D., Wong, W., Luo, R., Damodaran, J. R., Kaplan, S., Cho, H., Yan, J., Murphy, D. J., Rickert, R., Shukla, A., Zhong, A., Gonzalez, F., Yang, D., Li, W., Zhou, T., Apostolou, E., Leslie, C., Huangfu, D.
10.1101/2023.06.14.544990 — Posted: 2023-06-14

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