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.

49 Articles

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
Optimizing and benchmarking polygenic risk scores with GWAS summary statistics
Zhao, Z., Gruenloh, T., Wu, Y., Sun, Z., Miao, J., Wu, Y., Song, J., Lu, Q.
10.1101/2022.10.26.513833 — Posted: 2022-11-07
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
FAVOR: Functional Annotation of Variants Online Resource and Annotator for Variation across the Human Genome
Zhou, H., Arapoglou, T., Li, X., Li, Z., Zheng, X., Moore, J. E., Asok, A., Kumar, S., Blue, E. E., Buyske, S., Cox, N., Felsenfeld, A., Gerstein, M., Kenny, E., Li, B., Matise, T., Philippakis, A., Rehm, H., Sofia, H. J., Neale, B., Snyder, G., Weng, Z., Sunyaev, S., Lin, X.
10.1101/2022.08.28.505582 — Posted: 2022-08-29

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