Development of a High-Throughput Microarray Platform for Rapid, Low-Cost Expanded Carrier Screening
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The authors aimed to develop a high-throughput microarray platform for expanded carrier screening (ECS) that could efficiently detect 8271 variants across 265 genes while being more cost-effective and faster than next-generation sequencing (NGS). Their results demonstrated that the microarray platform achieved a 99.5% concordance with NGS results, with high sensitivity and specificity, thus confirming its reliability and suitability for large-scale population screening.
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