Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Hum Genomics. 2025 Jan 6;19(1):1. doi: 10.1186/s40246-024-00709-2. ABSTRACT BACKGROUND: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly …