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Flow diagram of participant recruitment and screening methodology. Two cohorts were included in this study: ( A ) Clinically validated samples used for optimizing <t>the</t> <t>pre-amplified</t> <t>product-to-gDNA</t> mixing ratio and comparing MLDP-AS performance against gold-standard diagnostics. ( B ) Prospective clinical screening samples tested using MLDP-AS. All detected pathogenic variants were confirmed by orthogonal methods, including Sanger sequencing, MLPA, or qPCR, to evaluate the specificity of MLDP-AS
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Flow diagram of participant recruitment and screening methodology. Two cohorts were included in this study: ( A ) Clinically validated samples used for optimizing the pre-amplified product-to-gDNA mixing ratio and comparing MLDP-AS performance against gold-standard diagnostics. ( B ) Prospective clinical screening samples tested using MLDP-AS. All detected pathogenic variants were confirmed by orthogonal methods, including Sanger sequencing, MLPA, or qPCR, to evaluate the specificity of MLDP-AS

Journal: Journal of Translational Medicine

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

doi: 10.1186/s12967-026-07735-9

Figure Lengend Snippet: Flow diagram of participant recruitment and screening methodology. Two cohorts were included in this study: ( A ) Clinically validated samples used for optimizing the pre-amplified product-to-gDNA mixing ratio and comparing MLDP-AS performance against gold-standard diagnostics. ( B ) Prospective clinical screening samples tested using MLDP-AS. All detected pathogenic variants were confirmed by orthogonal methods, including Sanger sequencing, MLPA, or qPCR, to evaluate the specificity of MLDP-AS

Article Snippet: Two cohorts were included in this study: ( A ) Clinically validated samples used for optimizing the pre-amplified product-to-gDNA mixing ratio and comparing MLDP-AS performance against gold-standard diagnostics. ( B ) Prospective clinical screening samples tested using MLDP-AS.

Techniques: Amplification, Sequencing