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Article

Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms.

BMC bioinformatics - 11 Nov 2020

Rao Junhua, Peng Lihua, Liang Xinming, Jiang Hui, Geng Chunyu, Zhao Xia, Liu Xin, Fan Guangyi, Chen Fang, Mu Feng

Abstract excerpt

BACKGROUND: DNBSEQ™ platforms are new massively parallel sequencing (MPS) platforms that use DNA nanoball technology. Use of data generated from DNBSEQ™ platforms to detect single nucleotide variants (SNVs) and small insertions and deletions (indels) has proven to be quite effective, while the feasibility of copy number variants (CNVs) detection is unclear. RESULTS: Here, we first benchmarked different CNV...

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Share to Databases, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33176676
DOI: 10.1186/s12859-020-03859-x
PMCID: PMC7659224

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