ArticleJournal of translational medicine2026
MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.
Article in Journal of translational medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
backgroundNext-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.
methodsWe developed and validated MLDP-AS (Multiplex Long-Distance PCR followed by Amplicon Sequencing), a novel NGS assay, to screen for pathogenic variants in ten prevalent single-gene disorders in the Chinese population, including alpha- and beta-thalassemia, non-syndromic hearing loss, spinal muscular atrophy, Duchenne muscular dystrophy, phenylketonuria, 21-hydroxylase deficiency, Wilson disease, methylmalonic acidemia, and Hemophilia A. MLDP-AS detects routine variants and technically challenging types, such as F8 intron 22 inversions, CYP21A2 variations, and single-exon CNVs, in a single test. The assay was optimized using positive clinical samples, with sensitivity validated against gold-standard methods. Clinical applicability was evaluated through a prospective study of couples planning or undergoing pregnancy, with positive results confirmed by gold-standard techniques.
resultsMLDP-AS achieved 100% sensitivity, identifying all 255 pathogenic variants in known positive samples, including 36 technically challenging variants. In a prospective trial involving 5,209 individuals, carriers for all targeted disorders were detected, with an overall carrier rate of 22.15%. Thirty-four couples (1.09%) were identified as at-risk, spanning seven of the ten diseases. A total of 289 pathogenic variants were detected 1,290 times, including 169 technically challenging variants. The assay demonstrated a positive predictive value of 99.7% compared to gold-standard methods. MLDP-AS is rapid and cost-effective, completing testing within three days at a cost under $25.
conclusionsMLDP-AS integrates detection of multiple complex variants into a single, comprehensive assay, overcoming limitations of conventional NGS. It significantly enhances variant detection and provides an efficient, cost-effective tool for carrier screening in the Chinese population.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.