Channel:  Impact of Genomic Variation on Function (IGVF)

232 Articles

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A missense variant effect map for the human tumour suppressor protein CHK2
Gebbia, M., Zimmerman, D. I., Jiang, R., Nguyen, M., Weile, J., Li, R., Gavac, M., Kishore, N., Sun, S., Boonen, R. A., Dines, J. N., Wahl, A., Reuter, J., Johnson, B., Fowler, D., van Attikum, H., Roth, F. P.
10.1101/2024.02.13.579700 — Posted: 2024-02-15
Enhancing Portability of Trans-Ancestral Polygenic Risk Scores through Tissue-Specific Functional Genomic Data Integration
Crone, B., Boyle, A. P.
10.1101/2024.02.07.579365 — Posted: 2024-02-09
Accurate quantification of single-cell and single-nucleus RNA-seq transcripts using distinguishing flanking k-mers
Eldjarn Hjörleifsson, K., Sullivan, D. K., Swarna, N. P., Holley, G., Melsted, P., Pachter, L.
10.1101/2022.12.02.518832 — Posted: 2024-01-26
kallisto, bustools, and kb-python for quantifying bulk, single-cell, and single-nucleus RNA-seq
Sullivan, D. K., Min, K. H., Hjörleifsson, K. E., Luebbert, L., Holley, G., Moses, L., Gustafsson, J., Bray, N. L., Pimentel, H., Booeshaghi, A. S., Melsted, P., Pachter, L.
10.1101/2023.11.21.568164 — Posted: 2024-01-23
Mechanosensitive genomic enhancers potentiate the cellular response to matrix stiffness
Cosgrove, B. D., Bounds, L. R., Taylor, C. K., Su, A. L., Rizzo, A. J., Barrera, A., Crawford, G. E., Hoffman, B. D., Gersbach, C. A.
10.1101/2024.01.10.574997 — Posted: 2024-01-10
Genomics 2 Proteins portal: A resource and discovery tool for linking genetic screening outputs to protein sequences and structures
Kwon, S., Safer, J., Nguyen, D. T., Hoksza, D., May, P., Arbesfeld, J., Rubin, A. F., Campbell, A. J., Burgin, A., Iqbal, S.
10.1101/2024.01.02.573913 — Posted: 2024-01-02
Rewriting regulatory DNA to dissect and reprogram gene expression
Martyn, G. E., Montgomery, M. T., Jones, H., Guo, K., Doughty, B. R., Linder, J., Chen, Z., Cochran, K., Lawrence, K. A., Munson, G., Pampari, A., Fulco, C. P., Kelley, D. R., Lander, E. S., Kundaje, A., Engreitz, J. M.
10.1101/2023.12.20.572268 — Posted: 2023-12-21
Flexible parsing, interpretation, and editing of technical sequences with splitcode
Sullivan, D. K., Pachter, L.
10.1101/2023.03.20.533521 — Posted: 2023-12-09
Reconstructing Spatial Transcriptomics at the Single-cell Resolution with BayesDeep
Jiang, X., Dong, L., Wang, S., Wen, Z., Chen, M., Xu, L., Xiao, G., Li, Q.
10.1101/2023.12.07.570715 — Posted: 2023-12-08
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries
Weile, J., Ferra, G., Boyle, G., Pendyala, S., Amorosi, C., Yeh, C.-L., Cote, A. G., Kishore, N., Tabet, D., van Loggerenberg, W., Rayhan, A., Fowler, D. M., Dunham, M. J., Roth, F. P.
10.1101/2023.02.22.529427 — Posted: 2023-12-07

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