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

• প্রধান লেখক: Yoko Kuroki (লেখক), Atsushi Hattori (লেখক), Keiko Matsubara (লেখক), Maki Fukami (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Korean Society of Pediatric Endocrinology, 2024-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...