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Inverted duplicate DNA sequences increase translocation rates through sequencing nanopores resulting in reduced base calling accuracy
2020
Nucleic Acids Research
Inverted duplicated DNA sequences are a common feature of structural variants (SVs) and copy number variants (CNVs). Analysis of CNVs containing inverted duplicated DNA sequences using nanopore sequencing identified recurrent aberrant behavior characterized by low confidence, incorrect and missed base calls. Inverted duplicate DNA sequences in both yeast and human samples were observed to have systematic elevation in the electrical current detected at the nanopore, increased translocation rates
doi:10.1093/nar/gkaa206
pmid:32255181
fatcat:xggul2ytd5e6xehodiocie2hw4