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Open AccessComparison of single cell sequencing data between two whole genome amplification methods on two sequencing platforms
Research based on a strategy of single-cell low-coverage whole genome sequencing (SLWGS) has enabled better reproducibility and accuracy for detection of copy number variations (CNVs). The whole genome amplifi...
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Article
Open AccessdbCNV: deleteriousness-based model to predict pathogenicity of copy number variations
Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize the relat...