Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics

• المؤلف الرئيسي: Soo Yeon Kim (مؤلف)
• التنسيق: كتاب
• منشور في: Korean Society of Pediatric Nephrology, 2024-02-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from selecting appropriate tests to the final inte...