Channel: Impact of Genomic Variation on Function (IGVF)

232 Articles

Dissecting embryonic and extra-embryonic lineage crosstalk with stem cell co-culture

Wei, Y., Zhang, E., Yu, L., Ci, B., Guo, L., Sakurai, M., Takii, S., Liu, J., Schmitz, D., Ding, Y., Zhan, L., Zheng, C., Sun, H.-X., Xu, L., Okamura, D., Ji, W., Tan, T., Wu, J.

10.1101/2023.03.07.531525 — Posted: 2023-03-08

Massively parallel characterization of transcriptional regulatory elements in three diverse human cell types

Agarwal, V., Inoue, F., Schubach, M., Martin, B., Dash, P., Zhang, Z., Sohota, A., Noble, W., Yardimci, G., Kircher, M., Shendure, J., Ahituv, N.

10.1101/2023.03.05.531189 — Posted: 2023-03-06

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.