Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders
Recent advances in long-read next-generation sequencing (NGS) have enabled researchers to identify several pathogenic variants overlooked by short-read NGS, array-based comparative genomic hybridization, and other conventional methods. Long-read NGS is particularly useful in the detection of structu...
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Korean Society of Pediatric Endocrinology,
2024-06-01T00:00:00Z.
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