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  1. ...introgressed genomic regions, mostly stochastically distributed across individuals (Supplemental Figs. S2, S3).Unlike neutral ancient introgression, if introgression conveys a selective advantage, population genetic theory predicts that introgressed genomic regions should be present at high frequency within...
  2. ...and genomic features of gars, (2) assess the conservation of gars in comparison with other vertebrates, (3) examine the rates of chromosome rearrangement and repeat evolution in gars relative to other vertebrates, and (4) determine whether there has been ancient gene flow among gar species based...
  3. ...isoform by transposon exonization, which is involved in the primate-specific immune response (Pasquesi et al. 2024). Thus, the emergence of transposon-derived exons has been revealed with higher resolution. Future comparative genomic analyses will elucidate the extent to which these exons are fixed...
  4. ..., Sudmant PH, Wagner J, Zook JM. 2023. Multiscale analysis of pans enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods 20: 1213–1221. doi:10.1038/s41592-023-01914-y ↵Cisneros E, Moraru M, Gómez-Lozano N, Muntasell A, López-Botet M, Vilches C. 2020...
  5. ...increased context resolution (i.e., include novel contexts which were not examined in GTEx) and increased sample size, which can be used to improve the inference of consensus and context-specific networks.Data aggregation improves the inference of consensus and context-specific GCNsThe median study...
  6. ...T-based mapping, particularly for diseases where accurate variant detection in these pathways is critical for understanding pathogenesis and improving diagnostic resolution. However, some additional LoF variants we identified, including in syntenic regions, were technical artifacts. However, through...
  7. ...for genomic data. Integrated into diverse architectures such as convoluted neural networks (CNNs), long short-term memory (LSTM), dilated CNNs, and transformers, ConvNeXt V2 blocks consistently improve performance, leading to similar prediction accuracy across these different model types. This reveals...
  8. ...that genetic risk for brain disorders resides within brain-enriched regulatory regions, maps of regulatory elements in brain-relevant cell types are of substantial value. We utilized a large-scale CapSTARR-seq approach to validate putative enhancer regions and characterize the noncoding genomic landscape of ph...
  9. ...) and genomic size (∼0.6 Mbp) (Supplemental Fig. S3), TAD border insulation strength (R2 = 0.77–1.00) (Supplemental Fig. S4) and intra-TAD contact frequencies (R2 = 0.91–1.00) (Supplemental Fig. S5), and genomic positions of both TADs (Jaccard index [JI] = 0.76–0.80; called at 50 kb resolution), and sub...
  10. .... Mitchell4, Jason E. Fish6,7,15 and Michael D. Wilson1,2 1Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 3K3, Canada; 2Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario M5G 0A4, Canada; 3Institut de Pharmacologie Moléculaire et Cellulaire, Université...
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