High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands

Abstract Background The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P. Methodology This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by compa...

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Bibliographic Details
Main Authors: Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Human Genomics
Subjects:
Congenital adrenal hyperplasia
Long-read sequencing
Comparative analysis
Clinical utility
Precise diagnosis
Online Access:https://doi.org/10.1186/s40246-024-00696-4
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