Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome

Abstract excerpt

BACKGROUND: Next-generation sequencing (NGS) has been applied for carrier screening, effectively reducing the incidence of severe diseases. However, some severe, high-prevalent and complex diseases, including spinal muscular atrophy (SMA), α-/β-thalassemia, 21-hydroxylase deficiency (21-OHD), and fragile-X syndrome (FXS), cannot be fully addressed by NGS, resulting in a high residual risk ratio. This study aims...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genomics and Rare Diseases
• Share to Hemoglobinopathies and Related Disorders
• Share to Neurogenetic and Muscular Disorders Research