論文

査読有り 国際誌
2020年1月

Human short tandem repeat identification using a nanopore-based DNA sequencer: a pilot study.

Journal of human genetics
  • Minoru Asogawa
  • ,
  • Ayumu Ohno
  • ,
  • So Nakagawa
  • ,
  • Eriko Ochiai
  • ,
  • Yasuhiro Katahira
  • ,
  • Megumi Sudo
  • ,
  • Motoki Osawa
  • ,
  • Masatoshi Sugisawa
  • ,
  • Tadashi Imanishi

65
1
開始ページ
21
終了ページ
24
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s10038-019-0688-z

Short tandem repeats (STRs) are repetitive DNA sequences that are highly polymorphic and widely used for personal identification in the field of forensic medicine. The standard method for determining the repeat number of STRs is capillary electrophoresis of PCR products; however, the use of DNA sequencing has increased because it can identify same-sized alleles with nucleotide substitutions (iso-alleles). In this study, we performed human STR genotyping using a portable nanopore-based DNA sequencer, the MinION, and evaluated its performance. Because the sequence quality obtained by MinION is considerably lower than those obtained with other DNA sequencers, we developed an original scoring scheme for judging the genotypes from MinION reads. Analysis of seven human samples for 21-45 STR loci yielded an average of 857 thousand reads per sample, and the accuracy of genotyping and iso-allele identification reached 75.7% and 82%, respectively. Although the accuracy is higher than that reported previously, further improvements are required before this method can be practically applied.

リンク情報
DOI
https://doi.org/10.1038/s10038-019-0688-z
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31649301
ID情報
  • DOI : 10.1038/s10038-019-0688-z
  • ISSN : 1434-5161
  • PubMed ID : 31649301

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