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CNV detection in the human genome

Rao, J., Peng, L., Liang, X. et al. (2020) assessed the efficacy for detecting copy number variations (CNV) using whole-genome sequencing with the DNBSEQ™ platform. In previous studies they had verified the platform’s efficacy for detecting single-nucleotide variants (SNVs) and insertions/deletions; this study focused on CNV detection. Results indicate that CNV detection capability on DNBSEQ™ is comparable to other platforms such as Illumina™ in terms of quantity, length, distribution, sensitivity and genome-wide accuracy. Moreover, DNBSEQ™ platforms are highlighted as providing a more accurate view of smaller CNVs. Rao, J., Peng, L., Liang, X. et al. (2020). Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms. BMC Bioinformatics 21, 518.

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