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