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MLDP-AS: An Optimized Next-Generation Sequencing Assay for Enhanced Detection of Technically Challenging Variants in Expanded Carrier Screening

2025-07-14

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<title>Abstract</title> <p> 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 <italic>F8</italic> inversions, <italic>CYP21A2</italic> variations, and single-exon copy number variations (CNVs), resulting in residual risk. Methods We developed and validated ML...

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Literature Corpus work: 763de189-aaf9-5019-b6b7-bee2cc8dc086
DOI: 10.21203/rs.3.rs-6880217/v1

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