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

Human genomics - 6 Jan 2025

Kim Jeong-Min, Cho Hye-Won, Shin Dong Mun, Kim Oc-Hee, Kim Jihyun, Lee Hyeji, Lee Gang-Hee, An Joon-Yong, Yang Misun, Jo Heui Seung, Jang Ja-Hyun, Chang Yun Sil, Park Hyun-Young, Park Mi-Hyun

Abstract excerpt

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 could be found in certain CA patients. However, some patients were genetically undiagnosed; therefore, it is imperative to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39762984
DOI: 10.1186/s40246-024-00709-2
PMCID: PMC11702056

Genes

CSMD1
FREM2
NOTCH1
NRXN1
RARS1
RYR3

Provenance

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