Simulated validation of intron-less transgene detection using DELLY for gene-doping control in horse sports

Simulated validation of intron-less transgene detection using DELLY for gene-doping control in horse sports / T. Tozaki  1 , A. Ohnuma, M. Kikuchi, T. Ishige, H. Kakoi, K. Hirota, K. Kusano, S. Nagata. - (Animal Genetics (2021) 2 August)

  • PMID: 34339052
  • DOI: 10.1111/age.13127


Gene doping is prohibited in horseracing. In a previous study, we developed a method for non-targeted transgene detection using DELLY, which is based on split-read (SR) and paired-end (PE) algorithms to detect structural variants, on WGS data. In this study, we validated the detection sensitivity of DELLY using artificially generated sequence data of 12 target genes. With DELLY, at least one intron was detected as a deletion in eight targeted genes using the 150 bp PE read WGS data, whereas all targeted genes were detected by DELLY using the 100 bp PE read data. The detection sensitivity was higher in 100 bp PE reads than in 150 bp PE reads, despite a lower total sequence coverage, probably because of mismatch tolerance between the mapped reads and reference genome. In addition, it was observed that the average intron size detected by SR alone was 293 bp and that detected by both SR and PE was 8924 bp. Thus, we showed that transgenes with various intron-exon structures could be detected using DELLY, suggesting its application in gene-doping control in horses.


Research / Study
2 August 2021
Hirota, Kei-Ichi
Ishige, Taichiro
Kakoi, Hironaga
Kikuchi, Mio
Kusano, K.
Kusano, Kanichi
Nagata, Jason M.
Ohnuma, Aoi
Tozaki, Teruaki
Equestrian (FEI) - International Equestrian Federation
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Japan Racing Association (JRA)
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Animal doping
Testing method development
Doping classes
M3. Gene And Cell Doping
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Gene Therapy
Doping control
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Date generated
30 August 2021
Date of last modification
27 September 2021
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