Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Keyphrases

• Whole Exome Sequencing 100%
• Molecular Diagnostics 100%
• Rare Diseases 100%
• Exome 100%
• Undiagnosed Diseases 100%
• Diagnostic Resolution 100%
• Next-generation Sequencing 37%
• Sanger Sequencing 37%
• Eukaryotic Initiation Factor 5B (eIF5B) 25%
• ANTXR2 25%
• Spasticity 12%
• Magnetic Resonance Imaging 12%
• Leukodystrophy 12%
• Leukoencephalopathy 12%
• Diagnostic Test 12%
• Pathogenic Variants 12%
• Exon 1 12%
• Clinical Diagnosis 12%
• Copy number 12%
• Coding Exons 12%
• Sequence Variants 12%
• Neuroaxonal Dystrophy 12%
• Duplication 12%
• Clinical Suspicion 12%
• Phenotypic Data 12%
• Image Adjustment 12%
• Homozygous Deletion 12%
• Gene Testing 12%
• PLA2G6 12%
• Single Base 12%
• Gene Panel 12%
• Heterozygous Pathogenic Variants 12%
• Vanishing White Matter 12%
• Deep Phenotyping 12%
• Cerebellar Atrophy 12%
• Variant Caller 12%
• Progressive Ataxia 12%
• Neurodevelopmental Regression 12%
• Infantile Systemic Hyalinosis 12%
• Frameshift Indel 12%

Medicine and Dentistry

• Exome 100%
• Exome Sequencing 100%
• Molecular Diagnosis 100%
• Diseases 100%
• Next Generation Sequencing 37%
• Sanger Sequencing 37%
• Base 12%
• Spasticity 12%
• Leukodystrophy 12%
• Leukoencephalopathy 12%
• Exon 12%
• Promoter Region 12%
• Clinical Finding 12%
• Ataxia 12%
• Indel Mutation 12%
• Cerebellum Atrophy 12%
• Infantile Neuroaxonal Dystrophy 12%
• Systemic Hyalinosis 12%
• Diagnostic Testing 12%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Exome 100%
• Next Generation Sequencing 37%
• Dideoxynucleotide Sequencing 37%
• Promoter Region 12%
• Exon 12%
• Indel 12%
• PLA2G6 12%