Ann Pediatr Endocrinol Metab.  2024 Jun;29(3):156-160. 10.6065/apem.2448028.014.

Long-read next-generation sequencing for molecular diagnosis of pediatric endocrine disorders

• Kuroki Y
• Hattori A
• Matsubara K
• Fukami M

• KMID: 2556671
• DOI: http://doi.org/10.6065/apem.2448028.014

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.

Keyword

Gene; Molecular analysis; Mutation; Nanopore; PacBio; Sequencer

Figure

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  Fig. 1. Genomic features for which long-read next-generation sequencing is advantageous over conventional methods.

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  Fig. 2. Schemas of chromothripsis/chromoanagenesis. This phenomenon is characterized by the shattering of one or a few chromosomes and their subsequent random realignment. This realignment can include deletion and duplication of chromosomal fragments.

Reference

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