Article
Clinical utility in infants with suspected monogenic conditions through next‐generation sequencing
9 Apr 2019
Abstract excerpt
BACKGROUND: Rare diseases are complex disorders with huge variability in clinical manifestations. Decreasing cost of next-generation sequencing (NGS) tests in recent years made it affordable. We witnessed the diagnostic yield and clinical use of different NGS strategies on a myriad of monogenic disorders in a pediatric setting. METHODS: Next-generation sequencing tests are performed for 98 unrelated Chinese...