Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing

Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing

Abstract Background Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants co...

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Main Authors: Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Human Genomics
Subjects:
Congenital Anomalies
Whole Genome Sequencing
Genetic Variant
Rare Disease
Online Access:https://doi.org/10.1186/s40246-024-00709-2
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