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...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5932280/
https://ncbi.nlm.nih.gov/pubmed/29095815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.170
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