Article

High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing Assay

2025-10-27

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders primarily caused by mutations in CYP21A2 and CYP11B1 . However, accurate genetic diagnosis remains challenging due to the high sequence homology between these genes and their corresponding homologs ( CYP21A1P, CYP11B2 ). <h4>Methods</h4> We developed NanoCAH (Nanopore-based Comprehensive An...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a0291f5e-33c8-576f-b14a-482f6178e24a
DOI: 10.1101/2025.10.24.25338696

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing AssayDOI 10.1101/2025.10.24.25338696Read

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.Semantic proximity Read

Long-read sequencing resolves the clinically relevant<i>CYP21A2</i>locus, supporting a new clinical test for Congenital Adrenal HyperplasiaSemantic proximity Read

HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCINGSemantic proximity Read

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Semantic proximity Read

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.Semantic proximity Read

Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia.Semantic proximity Read

Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing.Semantic proximity Read

Multisite Evaluation of an Amplification-based Nanopore Sequencing Solution to Analyze Challenging Clinically Relevant Variants in Genes Associated with Hereditary DiseasesSemantic proximity Read

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiencySemantic proximity Read

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.Semantic proximity Read

Development and validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy-number-variant identificationSemantic proximity Read

[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].Semantic proximity Read