Channel:  Impact of Genomic Variation on Function (IGVF)

120 Articles

Comparing Genomic and Epigenomic Features across Species Using the WashU Comparative Epigenome Browser
Zhuo, X., Hsu, S., Purushotham, D., Chen, S., Li, D., Wang, T.
10.1101/2022.11.29.518374 — Posted: 2022-12-02
Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
Lareau, C. A., Dubois, S. M., Buquicchio, F. A., Hsieh, Y.-H., Garg, K., Kautz, P., Nitsch, L., Praktiknjo, S. D., Maschmeyer, P., Verboon, J. M., Gutierrez, J. C., Yin, Y., Fiskin, E., Luo, W., Mimitou, E., Muus, C., Malhotra, R., Parikh, S., Fleming, M. D., Oevermann, L., Schulte, J., Eckert, C., Kundaje, A., Smibert, P., Satpathy, A. T., Regev, A., Sankaran, V. G., Agarwal, S., Ludwig, L. S.
10.1101/2022.11.20.517242 — Posted: 2022-11-20
EUGENe: A Python toolkit for predictive analyses of regulatory sequences
Klie, A., Stites, H., Jores, T., Solvason, J. J., Farley, E. K., Carter, H.
10.1101/2022.10.24.513593 — Posted: 2022-11-09
Analysis of alternative polyadenylation from long-read or short-read RNA-seq with LAPA
Celik, M. H., Mortazavi, A.
10.1101/2022.11.08.515683 — Posted: 2022-11-08
Mapping the convergence of genes for coronary artery disease onto endothelial cell programs
Schnitzler, G. R., Kang, H., Lee-Kim, V. S., Ma, R. X., Zeng, T., Angom, R. S., Fang, S., Vellarikkal, S. K., Zhou, R., Guo, K., Sias-Garcia, O., Bloemendal, A., Munson, G., Guckelberger, P., Nguyen, T. H., Bergman, D. T., Cheng, N., Cleary, B., Aragam, K., Mukhopadhyay, D., Lander, E. S., Finucane, H. K., Gupta, R. M., Engreitz, J. M.
10.1101/2022.11.01.514606 — Posted: 2022-11-04
A systematic genotype-phenotype map for missense variants in the human intellectual disability-associated gene GDI1
Silverstein, R. A., Sun, S. A., Verby, M., Weile, J., Wu, Y., Gebbia, M., Fotiadou, I., Kitaygorodsky, J., Roth, F. P.
10.1101/2021.10.06.463360 — Posted: 2022-10-11
Integrative dissection of gene regulatory elements at base resolution
Chen, Z., Javed, N. M., Moore, M., Wu, J., Vinyard, M. E., Pinello, L., Najm, F., Bernstein, B. E.
10.1101/2022.10.05.511030 — Posted: 2022-10-08
Machine-learning dissection of Human Accelerated Regions in primate neurodevelopment
Whalen, S., Inoue, F., Ryu, H., Fair, T., Markenscoff-Papadimitriou, E., Keough, K., Kircher, M., Martin, B., Alvarado, B., Elor, O., Cintron, D. L., Williams, A., Samee, M. A. H., Thomas, S., Krencik, R., Ullian, E., Kriegstein, A., Shendure, J., Pollen, A., Ahituv, N., Pollard, K. S.
10.1101/256313 — Posted: 2022-09-28
Empowering rare variant burden-based gene-trait association studies via optimized computational predictor choice
Kuang, D., Li, R., Wu, Y., Weile, J., Hegele, R. A., Roth, F. P.
10.1101/2021.09.20.459182 — Posted: 2022-09-22
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants
McAfee, J. C., Lee, S., Lee, J., Bell, J. L., Krupa, O., Davis, J., Insigne, K., Bond, M. L., Phanstiel, D. H., Love, M. I., Stein, J. L., Kosuri, S., Won, H.
10.1101/2022.09.15.22279954 — Posted: 2022-09-17

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