Pathogenic or not? Assessing the clinical relevance of copy number variants

Keyphrases

• Clinical Significance 100%
• Copy number Variation 100%
• Microarray 33%
• Intellectual Disability 33%
• Genome-wide Microarray 33%
• Variant Screening 33%
• Variant Interpretation 33%
• Radiology Workflow 16%
• Clinically Significant 16%
• Inheritance Pattern 16%
• Diagnostic Test 16%
• Neurodevelopmental Disorders 16%
• Chromosomal Aberrations 16%
• Recessive Inheritance 16%
• Tumor Diagnostics 16%
• Mosaicism 16%
• Multiple Congenital Anomalies 16%
• Sampling numbers 16%
• First-tier 16%
• Genomic Disorders 16%
• Digenic Inheritance 16%
• Common pitfalls 16%
• Genetic Disease Model 16%
• Rare CNVs 16%
• Inheritance Model 16%
• X-linked Inheritance 16%

Biochemistry, Genetics and Molecular Biology

• Microarrays 100%
• Intellectual Disability 50%
• Genetic Disorder 25%
• Inheritance 25%
• Mosaicism 25%
• Chromosomal Aberration 25%
• Recessive Inheritance 25%