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The infertile individual analysis based on whole-exome sequencing in chinese multi-ethnic groups

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  1. Article

    Open Access

    Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

    Although recessive mutations in LAMA2 are already known to cause laminin α2-related muscular dystrophy, a rare neuromuscular disorder, large deletions or duplications within this gene are not well-characterized. ...

    Lin Ge, Aijie Liu, Kai Gao, Renqian Du, Juan Ding, Bing Mao, Ying Hua… in Scientific Reports (2018)

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  2. Article

    Open Access

    Evaluation of copy number variation detection for a SNP array platform

    Copy Number Variations (CNVs) are usually inferred from Single Nucleotide Polymorphism (SNP) arrays by use of some software packages based on given algorithms. However, there is no clear understanding of the p...

    **n Zhang, Renqian Du, Shilin Li, Feng Zhang, Li **, Hongyan Wang in BMC Bioinformatics (2014)

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