December 5, 2025Frontiers in GeneticsOpen Access

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

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Authors

SMShaojie MinChildren's Hospital of Fudan University JSJingwei SunFirst Affiliated Hospital of Bengbu Medical College WCWeicheng ChenChildren's Hospital of Fudan University

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Implication

Observational analysis uncovered pathogenic structural variants in congenital heart disease and heterotaxy, suggesting genetic complexity should be addressed.

Key Points

825 high-confidence structural variants were identified, with 609 located in intergenic regions.
Analysis employed optical genome mapping to secure structural variants in 12 patients with congenital heart disease.
Equipped with tools like OMIM, we examined the genetic variants linked to congenital heart disease and heterotaxy.
Findings highlight the importance of optical genome mapping in revealing the genetic complexities of congenital heart disease.

Cite This Study

Min et al. (2025) studied this question.

synapsesocial.com/papers/694022442d562116f28fbc66 https://doi.org/10.3389/fgene.2025.1673539

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Implication

Observational analysis uncovered pathogenic structural variants in congenital heart disease and heterotaxy, suggesting genetic complexity should be addressed.

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

Discussion

Member takes

Implication

Key Points

Cite This Study

Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy

Discussion

Member takes

Implication

Key Points

Cite This Study

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