Improvement of large copy number variant detection by whole genome nanopore sequencing
Journal of Advanced Research(2023)
摘要
•Structural variants (SVs) calling tools are compared using real data.•We compare at the genome level the SVs detected by nanopore sequencing and aCGH.•We use coverage data for polishing calls and improve consensus.•Our method contributes to identify SVs and filtering out erroneous SV calls.
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关键词
Nanopore,Structural variant,Third-generation sequencing,SERPINC1
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