A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Keyphrases

• Exome Sequencing 100%
• ClinVar 100%
• Common pitfalls 100%
• Misinterpretation 100%
• Autism 40%
• Causal Variants 40%
• Intellectual Disability 40%
• Genotype 40%
• Exome 40%
• Congenital Anomalies 40%
• Telehealth 40%
• European Reference Networks 40%
• Lessons Learned 20%
• Unsolved Cases 20%
• Proband 20%
• Human Disease 20%
• Mode of Inheritance 20%
• Sequence Data 20%
• Single nucleotide Variant 20%
• Deadlock 20%
• R&D Projects 20%
• New Diagnosis 20%
• Additional Diagnosis 20%
• Fruit Quality Evaluation 20%
• Quality Filtering 20%

Biochemistry, Genetics and Molecular Biology

• Exome 100%
• Mental Retardation 100%
• Exome Sequencing 100%
• Genotyping 50%
• Single-Nucleotide Polymorphism 50%
• Proband 50%
• Indel 50%