Imprinting: the Achilles heel of trio-based exome sequencing

MeSH terms

• Angelman Syndrome / genetics
• Diagnostic Errors
• Exome*
• False Negative Reactions
• Family
• Female
• Genetic Testing / methods
• Genetic Testing / standards
• Genomic Imprinting / physiology*
• Humans
• Infant, Newborn
• Intellectual Disability / diagnosis
• Intellectual Disability / genetics*
• Molecular Diagnostic Techniques / methods*
• Molecular Diagnostic Techniques / standards
• Prader-Willi Syndrome / genetics
• Pregnancy
• Prenatal Diagnosis / methods
• Proteins / genetics*
• Sequence Analysis, DNA / methods*
• Sequence Analysis, DNA / standards