The Emerging Utility of Long-Read Sequencing: How Third-Generation Technologies are Resolving Complex Genomic Regions and Structural Variants.
One of the most successful commercial applications of **Next Generation Sequencing (NGS)** is **Non-Invasive Prenatal Testing (NIPT)**. NIPT screens for common chromosomal abnormalities, such as Down syndrome (Trisomy 21), using only a small sample of maternal blood. The test works by sequencing cell-free DNA (cfDNA) circulating in the mother's plasma, which contains a fraction of DNA shed by...
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