Nappi, A. ; Shilova, L. ; Karaletsos, T.* ; Cai, N. & Casale, F.P. BayesRVAT enhances rare-variant association testing through Bayesian aggregation of functional annotations. Genome Res., DOI: 10.1101/gr.280689.125 (2025) Steyaert, W.* et al. Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing. Genome Res. 35, 755-768 (2025) Iyer, D.P.* et al. Combinatorial microRNA activity is essential for the transition of pluripotent cells from proliferation into dormancy. Genome Res. 34, 572-589 (2024) Sens, D.W. et al. Genetics-driven risk predictions leveraging the Mendelian randomization framework. Genome Res. 34, 1276-1285 (2024) Giacopelli, B.* et al. DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia. Genome Res. 31, 747-761 (2021) Gardiner, L.J.* et al. Hidden variation in polyploid wheat drives local adaptation. Genome Res. 28, 1319-1332 (2018) Reymond Sutandy, F.X.* et al. In vitro iCLIP-based modeling uncovers how the splicing factor U2AF2 relies on regulation by cofactors. Genome Res. 28, 699-713 (2018) Clavijo, B.J.* et al. An improved assembly and annotation of the allohexaploid wheat genome identifies complete families of agronomic genes and provides genomic evidence for chromosomal translocations. Genome Res. 27, 885-896 (2017) Deng, T.* et al. Functional compensation among HMGN variants modulates the DNase I hypersensitive sites at enhancers. Genome Res. 25, 1295-1308 (2015) Lim, H.W.* et al. Genomic redistribution of GR monomers and dimers mediates transcriptional response to exogenous glucocorticoid in vivo. Genome Res. 25, 836-844 (2015) Spieler, D. et al. Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. Genome Res. 24, 592-603 (2014) Paul, D.S.* et al. Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. Genome Res. 23, 1130-1141 (2013) Windhager, L.* et al. Ultrashort and progressive 4sU-tagging reveals key characteristics of RNA processing at nucleotide resolution. Genome Res. 22, 2031-2042 (2012) Cox, B.J.* et al. Phenotypic annotation of the mouse X chromosome. Genome Res. 20, 1154-1164 (2010) Itoh, T.* et al. Curated genome annotation of Oryza sativa ssp. japonica and comparative genome analysis with Arabidopsis thaliana. Genome Res. 17, 175-183 (2007) Bruggmann, R. et al. Uneven chromosome contractionand expansion in the maize genome. Genome Res. 16, 1241-1251 (2006) Lai, J.* et al. Characterization of the maize endosperm transcriptome and its comparison to the rice genome. Genome Res. 14, 1932-1937 (2004) Frisch, M.* et al. In Silico Prediction of Scaffold/Matrix Attachment Regions in Large Genomic Sequences. Genome Res. 12, 349-354 (2002) Scherf, M. et al. First pass annotation of promoters on human chromosome 22. Genome Res. 11, 333-340 (2001)