Clinical interpretation of CNVs with cross-species phenotype data

Keyphrases

• Cross-species 100%
• Clinical Interpretation 100%
• Array Comparative Genomic Hybridization (aCGH) 66%
• Benign CNV 66%
• Patient Phenotype 33%
• Routine Diagnostics 33%
• Phenotypic Data 33%
• Clinical Evaluation 33%
• Haploinsufficiency 33%
• Duplication 33%
• Human Genes 33%
• Zebrafish 33%
• Novel Disease Genes 33%
• Phenotypic Abnormalities 33%
• Across Species 33%
• Medical Assessment 33%
• Orthologs 33%
• Mendelian Disorders 33%
• Genetic Matching 33%
• Gene Phenotype 33%
• Ranking Scheme 33%
• Comparing Models 33%
• Overlap Degree 33%
• Multiple Data Sources 33%
• Pathogenic CNV 33%
• Database Model 33%
• Search Model 33%
• Integrated Ranking 33%
• Phenotype Ontology 33%
• Model Organism Database 33%

Biochemistry, Genetics and Molecular Biology

• Comparative Genomic Hybridization 100%
• Clinical Trial 50%
• Haploinsufficiency 50%
• Zebra Fish 50%
• Orthology 50%

Computer Science

• Software Development Tool 100%
• Ontology 50%
• Multiple Data Source 50%