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Identification of Balanced Chromosomal Rearrangements Previously Unknown Among Participants in the 1000 Genomes Project: Implications for Interpretation of Structural Variation in Genomes and the Future of Clinical Cytogenetics
PURPOSE: Recent studies demonstrate that whole-genome sequencing (WGS) enables detection of cryptic rearrangements in apparently balanced chromosomal rearrangements (also known as balanced chromosomal abnormalities, BCAs) previously identified by conventional cytogenetic methods. We aimed to assess...
Autores principales: | Dong, Zirui, Wang, Huilin, Chen, Haixiao, Jiang, Hui, Yuan, Jianying, Yang, Zhenjun, Wang, Wen-Jing, Xu, Fengping, Guo, Xiaosen, Cao, Ye, Zhu, Zhenzhen, Geng, Chunyu, Cheung, Wan Chee, Kwok, Yvonne K, Yang, Huangming, Leung, Tak Yeung, Morton, Cynthia C., Cheung, Sau Wai, Choy, Kwong Wai |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932280/ https://www.ncbi.nlm.nih.gov/pubmed/29095815 http://dx.doi.org/10.1038/gim.2017.170 |
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