LGvar is presented, a divergence-aware tool for identifying SVs in population-scale and cross-species genome assemblies, enabling up to a 7-fold increase in the detection of large deletions, insertions, inversions and complex rearrangements.
Collectively, the results demonstrated that indels and SVs could capture additional signatures besides SNPs, and complementarily drive genomic divergence across environmental gradients in such a high-elevation endemic species, underscoring its evolutionary relevance in local adaptation.
Through multiplex, single-cell enhancer assays, HAQERs are identified as active enhancers in the developing brain and cardiomyocytes, and their potential contributions to human-specific gene regulation across multiple tissues are highlighted.
Yan-Ting Luo, Riley J. Mangan, S. Weaver et al.· Cell Genomics· 0 citations
The findings demonstrate the importance of SVs as a dimension of genomic diversity and provide a foundation for integrating structural variation into evolutionary studies, conservation genomics, and tree breeding.
Hui Liu, Wei Zhao, Jing-Fang Guo et al.· Molecular biology and evolut...· 0 citations
The results reveal that recurrent deletion events have repeatedly contributed to the evolution of cave-adapted phenotypes and highlight deletions as underexplored contributors of adaptive evolution in a system characterized by trait loss.
Emma Y. Roback, Maggs X, Edward S. Ricemeyer et al.· bioRxiv· 1 citation
This work describes the full spectrum of genetic variation and shows that while 99% of the variants between any two genomes are single base-pair substitutions, 88% of the euchromatic variant base pairs are SVs, including insertions, deletions, duplications, and inversions.
J. Lin, J. Gustafson, J. Wertz et al.· medRxiv· 1 citation
Together, these advances establish SV-centered genomics as a critical framework for understanding plant genome evolution and accelerating precision crop improvement.
Ru-Yi Liu, Le-Tong Huang, Jing-Ru Mu et al.· Plants· 0 citations
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