Channel:  Impact of Genomic Variation on Function (IGVF)

120 Articles

A flexible modeling and inference framework for estimating variant effect sizes from GWAS summary statistics
Spence, J. P., Sinnott-Armstrong, N., Assimes, T., Pritchard, J. K.
10.1101/2022.04.18.488696 — Posted: 2022-04-19
Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria
Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O'Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., Biesecker, L. G., Radivojac, P., Brenner, S. E., ClinGen Sequence Variant Interpretation Working Group
10.1101/2022.03.17.484479 — Posted: 2022-03-19
Evolution of transposable element-derived enhancer activity
Du, A. Y., Zhuo, X., Sundaram, V., Jensen, N. O., Chaudhari, H. G., Saccone, N. L., Cohen, B. A., Wang, T.
10.1101/2022.03.16.483999 — Posted: 2022-03-17
Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data
Zhang, M. J., Hou, K., Dey, K. K., Sakaue, S., Jagadeesh, K. A., Weinand, K., Taychameekiatchai, A., Rao, P., Pisco, A. O., Zou, J., Wang, B., Gandal, M., Raychaudhuri, S., Pasaniuc, B., Price, A. L.
10.1101/2021.09.24.461597 — Posted: 2022-03-04
Heterogeneity of Inflammation-associated Synovial Fibroblasts in Rheumatoid Arthritis and Its Drivers
Smith, M. H., Gao, V. R., Schizas, M., Kochen, A., DiCarlo, E., Goodman, S., Norman, T. M., Donlin, L., Leslie, C. S., Rudensky, A. Y.
10.1101/2022.02.28.482131 — Posted: 2022-03-02
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Maury, E. A., Jones, A., Seplyarskiy, V., Rosenbluh, C., Bae, T., Wang, Y., Abyzov, A., Khoshkoo, S., Chahine, Y., Brain Somatic Mosaicism Network, , Park, P. J., Akbarian, S., Lee, E. A., Sunyaev, S. R., Walsh, C. A., Chess, A.
10.1101/2022.02.23.481681 — Posted: 2022-02-24
Exploring genomic data coupled with 3D chromatin structures using the WashU Epigenome Browser
Li, D., Purushotham, D., Harrison, J. K., Wang, T.
10.1101/2022.01.18.476849 — Posted: 2022-01-21
Leveraging a surrogate outcome to improve inference on a partially missing target outcome
McCaw, Z. R., Gaynor, S. M., Sun, R., Lin, X.
10.1101/2020.11.29.403063 — Posted: 2022-01-20
MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays
Rubin, A. F., Min, J. K., Rollins, N. J., Da, E. Y., Esposito, D., Harrington, M., Stone, J., Bianchi, A. H., Dias, M., Frazer, J., Fu, Y., Gallaher, M., Li, I., Moscatelli, O., Ong, J. Y., Rollins, J. E., Wakefield, M. J., Ye, S., Tam, A., McEwen, A. E., Starita, L. M., Bryant, V. L., Marks, D. S., Fowler, D. M.
10.1101/2021.11.29.470445 — Posted: 2022-01-18
Diverse digital and fuzzy composite transcriptional elements are prevalent features of mammalian cis-regulomes
Chaudhri, V. K., Singh, H.
10.1101/2021.11.26.470154 — Posted: 2021-11-27

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