Genomic Structural Variation

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  Subject Areas on Research

  • Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. 
  • De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. 
  • Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer. 
  • Identification of Undetected Monogenic Cardiovascular Disorders. 
  • Integrated paired-end enhancer profiling and whole-genome sequencing reveals recurrent CCNE1 and IGF2 enhancer hijacking in primary gastric adenocarcinoma. 
  • SVA: software for annotating and visualizing sequenced human genomes. 
  • Structural variants in SNCA gene and the implication to synucleinopathies. 
  • Subgroup-specific structural variation across 1,000 medulloblastoma genomes. 
  • The standing pool of genomic structural variation in a natural population of Mimulus guttatus. 
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  Keywords of People

  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Shoben, Chelsea, Student, Basic Science Departments