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

A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Li, X., Chen, H., Selvaraj, M. S., Van Buren, E., Zhou, H., Wang, Y., Sun, R., McCaw, Z. R., Yu, Z., Arnett, D. K., Bis, J. C., Blangero, J., Boerwinkle, E., Bowden, D. W., Brody, J. A., Cade, B. E., Carson, A. P., Carlson, J. C., Chami, N., Chen, Y.-D. I., Curran, J. E., de Vries, P. S., Fornage, M., Franceschini, N., Freedman, B. I., Gu, C., Heard-Costa, N. L., He, J., Hou, L., Hung, Y.-J., Irvin, M. R., Kaplan, R. C., Kardia, S. L. R., Kelly, T., Konigsberg, I., Kooperberg, C., Kral, B. G., Li, C., Loos, R. J. F., Mahaney, M. C., Martin, L. W., Mathias, R. A., Minster, R. L., Mitchell, B. D
10.1101/2023.10.30.564764 — Posted: 2023-11-02
Transcription factor stoichiometry, motif affinity and syntax regulate single-cell chromatin dynamics during fibroblast reprogramming to pluripotency
Nair, S., Ameen, M., Sundaram, L., Pampari, A., Schreiber, J., Balsubramani, A., Wang, Y. X., Burns, D., Blau, H. M., Karakikes, I., Wang, K. C., Kundaje, A.
10.1101/2023.10.04.560808 — Posted: 2023-10-21
Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect
Ranola, J. M., Horton, C., Pesaran, T., Fayer, S., Starita, L. M., Shirts, B. H.
10.1101/2023.10.20.562794 — Posted: 2023-10-20
Convergent Epigenetic Evolution Drives Relapse in Acute Myeloid Leukemia
Nuno, K., Azizi, A., Koehnke, T., Lareau, C., Ediriwickrema, A., Corces, M. R., Satpathy, A. T., Majeti, R.
10.1101/2023.10.10.561642 — Posted: 2023-10-10
Leveraging a machine learning derived surrogate phenotype to improve power for genome-wide association studies of partially missing phenotypes in population biobanks
McCaw, Z. R., Gao, J. R., Lin, X., Gronsbell, J.
10.1101/2022.12.12.520180 — Posted: 2023-10-05
5-hydroxymethylcytosines regulate gene expression as a passive DNA demethylation resisting epigenetic mark in proliferative somatic cells
Wei, A., Zhang, H., Qiu, Q., Fabyanic, E. B., Hu, P., Wu, H.
10.1101/2023.09.26.559662 — Posted: 2023-09-27
Ensembled best subset selection using summary statistics for polygenic risk prediction
Chen, T., Zhang, H., Mazumder, R., Lin, X.
10.1101/2023.09.25.559307 — Posted: 2023-09-27
Biophysically Interpretable Inference of Cell Types from Multimodal Sequencing Data
Chari, T., Gorin, G., Pachter, L.
10.1101/2023.09.17.558131 — Posted: 2023-09-19
Universal preprocessing of single-cell genomics data
Booeshaghi, A. S., Sullivan, D. K., Pachter, L.
10.1101/2023.09.14.543267 — Posted: 2023-09-15
Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium
Jiang, M.-Z., Gaynor, S. M., Li, X., Van Buren, E., Stilp, A., Buth, E., Wang, F. F., Manansala, R., Gogarten, S. M., Li, Z., Polfus, L. M., Salimi, S., Bis, J. C., Pankratz, N., Yanek, L. R., Durda, P., Tracy, R. P., Rich, S. S., Rotter, J. I., Mitchell, B. D., Lewis, J. P., Psaty, B. M., Pratte, K. A., Silverman, E. K., Kaplan, R. C., Avery, C., North, K., Mathias, R. A., Faraday, N., Lin, H., Wang, B., Carson, A. P., Norwood, A. F., Gibbs, R. A., Kooperberg, C., Lundin, J., Peters, U., Dupuis, J., Hou, L., Fornage, M., Benjamin, E. J., Reiner, A. P., Bowler, R. P., Lin, X., Auer, P. L., Raf
10.1101/2023.09.10.555215 — Posted: 2023-09-12

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