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.

46 Articles

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
Chemico-genetic Analysis of Native Autism Proteomes Reveals Shared Biology Predictive of Functional Modifiers
Gao, Y., Trn, M., Shonai, D., Zhao, J., Soderblom, E. J., Garcia-moreno, S. A., Gersbach, C. A., Wetsel, W. C., Dawson, G., Velmeshev, D., Jiang, Y.-h., Sloofman, L., Buxbaum, J., Soderling, S. H.
10.1101/2022.10.06.511211 — Posted: 2022-10-07
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
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
Modeling tissue co-regulation to estimate tissue-specific contributions to disease
Amariuta, T., Siewert-Rocks, K., Price, A. L.
10.1101/2022.08.25.505354 — Posted: 2022-08-26
A statistical genetics guide to identifying HLA alleles driving complex disease
Sakaue, S., Gurajala, S., Curtis, M., Luo, Y., Choi, W., Ishigaki, K., Kang, J. B., Rumker, L., Deutsch, A. J., Schonherr, S., Forer, L., LeFaive, J., Fuchsberger, C., Han, B., Lenz, T. L., de Bakker, P. I. W., Smith, A. V., Raychaudhuri, S.
10.1101/2022.08.24.504550 — Posted: 2022-08-26
A mutation rate model at the basepair resolution identifies the mutagenic effect of Polymerase III transcription
Seplyarskiy, V., Lee, D. J., Koch, E. M., Lichtman, J. S., Luan, H. H., Sunyaev, S. R.
10.1101/2022.08.20.504670 — Posted: 2022-08-21
Recurrent mutation in the ancestry of a rare variant
Wakeley, J., Fan, W. T., Koch, E., Sunyaev, S.
10.1101/2022.08.18.504427 — Posted: 2022-08-18
Mutagenesis at non-B DNA motifs in the human genome: a course correction
McGinty, R. J., Sunyaev, S. R.
10.1101/2022.02.08.479604 — Posted: 2022-08-15

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