- Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders
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Fukami M, Miyado M
- KMID: 2383902
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):90-94.
- doi: 10.6065/apem.2017.22.2.90
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for... -
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- Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders
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Kuroki Y, Hattori A, Matsubara K, Fukami M
- KMID: 2556671
- Ann Pediatr Endocrinol Metab.
- 2024 Jun;29(3):156-160.
- doi: 10.6065/apem.2448028.014
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... -
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