The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci

Keyphrases

• Autosomal Recessive 100%
• Array Comparative Genomic Hybridization (aCGH) 100%
• Copy number Variation 100%
• Phase Analysis 100%
• Exonic 80%
• Cohen Syndrome 60%
• Clinical Information 20%
• Accurate Diagnosis 20%
• Clinical Phenotype 20%
• Sequence Analysis 20%
• Compound Heterozygous mutation 20%
• Pathogenic Variants 20%
• Structural Variation 20%
• Small Deletion 20%
• Copy number Analysis 20%
• Recessive Genes 20%
• Risk Counseling 20%
• Genome Copy number 20%
• Heterozygous Pathogenic Variants 20%
• VPS13B 20%
• COH1 20%
• Truncation number 20%

Biochemistry, Genetics and Molecular Biology

• Autosomal Recessive Disorder 100%
• Array Comparative Genomic Hybridization 100%
• Copy-Number Variation 100%
• Shotgun Sequencing 50%
• Protein Sequencing 50%
• Copy Number Analysis 50%
• Recessive Gene 50%