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  1. Article

    Open Access

    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...

    Yanqiu Liu, Liangwei Mao, Hui Huang, Wei Li, Jianfen Man… in Human Genome Variation (2023)

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