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Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics

BACKGROUND: Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities. Karyotyping and FISH are traditional detection approaches with a low resolutio...

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Detalles Bibliográficos
Autores principales: Dai, Peng, Zhu, Xiaofan, Pei, Yanzheng, Chen, Peng, Li, Jingjing, Gao, Zhi, Liang, Yu, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184658/
https://www.ncbi.nlm.nih.gov/pubmed/35384386
http://dx.doi.org/10.1002/mgg3.1936