Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders
- Author:
Yoko KUROKI
1
;
Atsushi HATTORI
;
Keiko MATSUBARA
;
Maki FUKAMI
Author Information
- Publication Type:Review Article
- From:Annals of Pediatric Endocrinology & Metabolism 2024;29(3):156-160
- CountryRepublic of Korea
- Language:EN
- Abstract: 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 structural variants and repeat expansions. Furthermore, it can be used for mutation screening in difficultto- sequence regions, as well as for DNA-methylation analyses and haplotype phasing. This mini-review introduces the usefulness of long-read NGS in the molecular diagnosis of pediatric endocrine disorders.
