論文

査読有り 国際誌
2018年5月

Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population.

Heliyon
  • Satoshi Hirata
  • ,
  • Kaname Kojima
  • ,
  • Kazuharu Misawa
  • ,
  • Olivier Gervais
  • ,
  • Yosuke Kawai
  • ,
  • Masao Nagasaki

4
5
開始ページ
e00625
終了ページ
e00625
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1016/j.heliyon.2018.e00625

Forensic DNA typing is widely used to identify missing persons and plays a central role in forensic profiling. DNA typing usually uses capillary electrophoresis fragment analysis of PCR amplification products to detect the length of short tandem repeat (STR) markers. Here, we analyzed whole genome data from 1,070 Japanese individuals generated using massively parallel short-read sequencing of 162 paired-end bases. We have analyzed 843,473 STR loci with two to six basepair repeat units and cataloged highly polymorphic STR loci in the Japanese population. To evaluate the performance of the cataloged STR loci, we compared 23 STR loci, widely used in forensic DNA typing, with capillary electrophoresis based STR genotyping results in the Japanese population. Seventeen loci had high correlations and high call rates. The other six loci had low call rates or low correlations due to either the limitations of short-read sequencing technology, the bioinformatics tool used, or the complexity of repeat patterns. With these analyses, we have also purified the suitable 218 STR loci with four basepair repeat units and 53 loci with five basepair repeat units both for short read sequencing and PCR based technologies, which would be candidates to the actual forensic DNA typing in Japanese population.

リンク情報
DOI
https://doi.org/10.1016/j.heliyon.2018.e00625
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29872759
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986539
ID情報
  • DOI : 10.1016/j.heliyon.2018.e00625
  • PubMed ID : 29872759
  • PubMed Central 記事ID : PMC5986539

エクスポート
BibTeX RIS