Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort

Keyphrases

• Next-generation Sequencing 100%
• Diagnostic Utility 100%
• Somatic Mosaicism 100%
• Likely Pathogenic Variant 60%
• Diagnostic Sensitivity 40%
• PIK3CA 20%
• Cell Proliferation 20%
• Diverse Groups 20%
• Gene Set 20%
• Cell Survival 20%
• Nonsyndromic 20%
• Peripheral Blood 20%
• High Sensitivity 20%
• Growth Advantage 20%
• Oncology 20%
• Cultured Fibroblasts 20%
• Diagnostic Performance 20%
• Disease Phenotype 20%
• Skin Biopsy 20%
• Formalin-fixed Paraffin-embedded Tissue 20%
• Clinical Lab 20%
• Deep Sequencing 20%
• Syndromic 20%
• Gain-of-function Variant 20%
• Syndromic Conditions 20%
• Space Constraints 20%
• Gene Space 20%
• Technical Requirements 20%
• Mosaic Variant 20%
• Cancer Assay 20%
• Buccal Swab 20%

Biochemistry, Genetics and Molecular Biology

• Next Generation Sequencing 100%
• Mosaicism 100%
• Cell Proliferation 16%
• Cell Survival 16%
• Deep Sequencing 16%
• Fibroblast 16%

Immunology and Microbiology

• Next Generation Sequencing 100%
• Mosaicism 100%
• Cell Survival 16%
• Cell Proliferation 16%
• Fibroblast 16%