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Article

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.

Journal of translational medicine - 14 Feb 2026

Zhao Zhenhua, Zhao Ganye, Li Shaojun, Yuan Chao, Feng Jun, Tang Weiqin, Fu Xinyu, Li Huanyun, Zhu Jingqi, Zhao Xueyang, Wu Di, Kong Xiangdong

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS) facilitates simultaneous carrier screening for multiple single-gene disorders. However, conventional NGS methods struggle to detect complex variants, such as F8 inversions, CYP21A2 variations, and single-exon copy number variations (CNVs), resulting in residual risk. METHODS: We developed and validated MLDP-AS (Multiplex Long-Distance PCR followed by Amplicon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41691275
DOI: 10.1186/s12967-026-07735-9
PMCID: PMC13011770

Genes

CYP21A2
F8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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