A Cell‐free DNA Barcode‐Enabled Single‐Molecule Test for Noninvasive Prenatal Diagnosis of Monogenic Disorders: Application to β‐Thalassemia

Abstract excerpt

Noninvasive prenatal testing of common aneuploidies has become routine over the past decade, but testing of monogenic disorders remains a challenge in clinical implementation. Most recent studies have inherent limitations, such as complicated procedures, a lack of versatility, and the need for prior knowledge of parental genotypes or haplotypes. To overcome these limitations, a robust and versatile...

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