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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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 |