A5059750616- Chromosomal and Genetic Variations
- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- CRISPR and Genetic Engineering
- Advanced biosensing and bioanalysis techniques
- Genetics, Bioinformatics, and Biomedical Research
- Low-power high-performance VLSI design
- Parallel Computing and Optimization Techniques
Jackson Laboratory
2022-2023
Texas A&M International University
2022
Abstract Transposable elements constitute about half of human genomes, and their role in generating variation through retrotransposition is broadly studied appreciated. Structural variants mediated by transposons, which we call transposable element-mediated rearrangements (TEMRs), are less well studied, the mechanisms leading to formation as broader impact on diversity poorly understood. Here, identify 493 unique TEMRs across genomes three individuals. While homology directed repair dominant...
Diverse inbred mouse strains are important biomedical research models, yet genome characterization of many is fundamentally lacking in comparison with humans. In particular, catalogs structural variants (SVs) (variants ≥ 50 bp) incomplete, limiting the discovery causative alleles for phenotypic variation. Here, we resolve genome-wide SVs 20 genetically distinct mice long-read sequencing. We report 413,758 site-specific affecting 13% (356 Mbp) reference assembly, including 510 previously...
SUMMARY Diverse inbred mouse strains are among the foremost models for biomedical research, yet genome characterization of many has been fundamentally lacking in comparison to human genomics research. In particular, discovery and cataloging structural variants is incomplete, limiting potentially causative alleles phenotypic variation across individuals. Here, we utilized long-read sequencing resolve genome-wide (SVs, ≥ 50 bp) 20 genetically distinct mice. We report 413,758 site-specific SVs...
Abstract Complex structural variants (CSVs) encompass multiple breakpoints and are often missed or misinterpreted by state-of-the-art variant detection algorithms. We developed SVision, a deep-learning based multi-object recognition framework, to automatically detect characterize CSVs from long-read data. SVision outperforms current callers at identifying internal structure of complex events revealed 80 high-quality with 25 distinct structures an individual genome. directly detects without...
ABSTRACT Transposable elements constitute about half of human genomes, and their role in generating variation through retrotransposition is broadly studied appreciated. Structural variants mediated by transposons, which we call transposable element-mediated rearrangements (TEMRs), are less well studied, the mechanisms leading to formation as broader impact on diversity poorly understood. Here, identify 493 unique TEMRs across genomes three individuals. While homology directed repair dominant...