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

Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex
Deng, C., Whalen, S., Steyert, M., Ziffra, R., Przytycki, P. F., Inoue, F., Pereira, D. A., Capauto, D., Norton, S., Vaccarino, F. M., Pollen, A. A., Nowakowski, T. J., Ahituv, N., Pollard, K. S.
10.1101/2023.02.15.528663 — Posted: 2023-02-16
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
van Loggerenberg, W., Sowlati-Hashjin, S., Weile, J., Hamilton, R., Chawla, A., Gebbia, M., Kishore, N., Fresard, L., Mustajoki, S., Pischik, E., Di Pierro, E., Barbaro, M., Floderus, Y., Schmitt, C., Gouya, L., Colavin, A., Nussbaum, R., Friesema, E. C. H., Kauppinen, R., To-Figueras, J., Aarsand, A. K., Desnick, R. J., Garton, M., Roth, F. P.
10.1101/2023.02.06.527353 — Posted: 2023-02-06
Molecular mechanisms of coronary artery disease risk at the PDGFD locus
Kim, H.-J., Cheng, P., Travisano, S., Weldy, C. S., Monteiro, J., Kundu, R., Nguyen, T., Sharma, D., Shi, H., Liu, B., Lin, Y., Haldar, S., Jackson, S., Quertermous, T.
10.1101/2023.01.26.525789 — Posted: 2023-01-27
HiCLift: A fast and efficient tool for converting chromatin interaction data between genome assemblies
Wang, X., Yue, F.
10.1101/2023.01.17.524475 — Posted: 2023-01-20
CHD-associated enhancers shape human cardiomyocyte lineage commitment
Armendariz, D. A., Goetsch, S. C., Sundarrajan, A., Sivakumar, S., Wang, Y., Xie, S., Munshi, N. V., Hon, G. C.
10.1101/2022.04.07.487515 — Posted: 2023-01-20
Uncovering context-specific genetic-regulation of gene expression from single-cell RNA-sequencing using latent-factor models
Strober, B. J., Tayeb, K., Popp, J., Qi, G., Gordon, M. G., Perez, R., Ye, C. J., Battle, A.
10.1101/2022.12.22.521678 — Posted: 2022-12-23
Universal chromatin state annotation of the mouse genome
Vu, H. T., Ernst, J.
10.1101/2022.12.19.521116 — Posted: 2022-12-20
Integrating deep mutational scanning and low-throughput mutagenesis data to predict the impact of amino acid variants
Fu, Y., Bedo, J., Papenfuss, A. T., Rubin, A. F.
10.1101/2022.12.14.520494 — Posted: 2022-12-16
Reimagining Gene-Environment Interaction Analysis for Human Complex Traits
Miao, J., Song, G., Wu, Y., Hu, J., Wu, Y., Basu, S., Andrews, J. S., Schaumberg, K., Fletcher, J. M., Schmitz, L. L., Lu, Q.
10.1101/2022.12.11.519973 — Posted: 2022-12-14
Multiplex profiling of developmental enhancers with quantitative, single-cell expression reporters
Lalanne, J.-B., Regalado, S. G., Domcke, S., Calderon, D., Martin, B., Li, T., Suiter, C. C., Lee, C., Trapnell, C., Shendure, J. A.
10.1101/2022.12.10.519236 — Posted: 2022-12-10

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