| CA | Congenital anomalies |
| NIH | National Institutes of Health |
| NGS | Next-generation sequencing |
| SMC | Samsung Medical Center |
| HPO | Human Phenotype Ontology |
| DNA | Deoxyribonucleic acid |
| WGS | Whole genome sequencing |
| RNA | Ribonucleic acid |
| WES | Whole exome sequencing |
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