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