Channel:  Impact of Genomic Variation on Function (IGVF)

120 Articles

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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
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
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
Chromatin state modeling across individuals reveals global patterns of histone modifications
Zou, J., Ernst, J.
10.1101/2022.08.02.502571 — Posted: 2022-08-03
Dynamic states of cervical epithelia during pregnancy and epithelial barrier disruption
Cooley, A., Madhukaran, S., Stroebele, E., Caraballo, M. C., Wang, L., Hon, G., Mahendroo, M.
10.1101/2022.07.26.501609 — Posted: 2022-07-28
PerturbNet predicts single-cell responses to unseen chemical and genetic perturbations
Yu, H., Welch, J. D.
10.1101/2022.07.20.500854 — Posted: 2022-07-22
SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease
Dey, K. K., Gazal, S. K., van de Geijn, B., Kim, S. S., Nasser, J., Engreitz, J. M., Price, A.
10.1101/2020.09.02.279059 — Posted: 2022-07-15
ChromGene: Gene-Based Modeling of Epigenomic Data
Jaroszewicz, A., Ernst, J.
10.1101/2022.05.24.493345 — Posted: 2022-07-05
Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease
Ameen, M., Sundaram, L., Banerjee, A., Shen, M., Kundu, S., Nair, S., Shcherbina, A., Gu, M., Wilson, K. D., Varadarajan, A., Vadgama, N., Balsubramani, A., Wu, J. C., Engreitz, J., Farh, K., Karakikes, I., Wang, K. C., Quertermous, T., Greenleaf, W., Kundaje, A.
10.1101/2022.06.29.498132 — Posted: 2022-06-29

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