Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

• Main Authors: Ruiping Zhang (Author), Xiaoyu Cui (Author), Yan Zhang (Author), Huiqing Ma (Author), Jing Gao (Author), Ying Zhang (Author), Jianbo Shu (Author), Chunquan Cai (Author), Yang Liu (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-based approach for diagnosing genetic disorders. Thi...