Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number variation (CNV). Many human diseases including genetic disorders are associated with variations in the genome. These disorders are often difficult to be di...

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Detalles Bibliográficos
Autores principales: Liu, Yanqiu, Mao, Liangwei, Huang, Hui, Li, Wei, Man, Jianfen, Zhang, Wenqian, Wang, Lina, Li, Long, Sun, Yan, Zhai, Teng, Guo, Xueqin, Du, Lique, Huang, Jin, Li, Hao, Wan, Yang, Wei, Xiaoming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10203365/
https://www.ncbi.nlm.nih.gov/pubmed/37217505
http://dx.doi.org/10.1038/s41439-023-00238-9

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