Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

This study underscores the capability of optical genome mapping to deliver comprehensive and precise information. It is anticipated that optical genome mapping will emerge as a valuable cytogenetic tool within clinical genetic methodologies, providing new references and insights for clinical practice in the future.

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Publication Details

Journal
Frontiers in Genetics
Published
2025-05-22
DOI
https://doi.org/10.3389/fgene.2025.1555485
Citations
2
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
3.63
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article

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Xiaohang Hu, Hong Chang, Hong Sang, Jing Guo et al.
2 citations
Frontiers in Genetics
Genomic variations and chromosomal abnormalities
3.63
article

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Xiaohang Hu, Hong Chang, Hong Sang, Jing Guo, Jinyan Yan, Ting Liu, Min Kong, Haixin Dong, Liqing Jiang, Yanjun Tian
article en
2 citations

Abstract

This study underscores the capability of optical genome mapping to deliver comprehensive and precise information. It is anticipated that optical genome mapping will emerge as a valuable cytogenetic tool within clinical genetic methodologies, providing new references and insights for clinical practice in the future.

Frontiers in GeneticsVol. 16
Affiliated Hospital of Jining Medical University (CN), Jining Medical University (CN)
Openalex Percentile: Top 8%
Genomic variations and chromosomal abnormalities
3.63
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