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Infinium Assay for Large-scale SNP Genotyping Applications
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Forensic tri-allelic SNP genotyping using nanopore sequencing.

Senne Cornelis1, Yannick Gansemans2, Ann-Sophie Vander Plaetsen2

  • 1Laboratory of Pharmaceutical Biotechnology, Ghent University, 9000 Gent, Belgium; Department of Life Sciences and Imaging, imec, 3001 Leuven, Belgium.

Forensic Science International. Genetics
|November 19, 2018
PubMed
Summary
This summary is machine-generated.

Forensic SNP genotyping using nanopore sequencing is feasible for tri-allelic markers. This method successfully genotyped most single nucleotide polymorphism (SNP) loci, demonstrating its potential for casework analysis.

Keywords:
ForensicMinIONNext generation sequencingOxford nanopore technologiesSNP

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Area of Science:

  • Genomics
  • Forensic Science
  • Molecular Biology

Background:

  • Single nucleotide polymorphisms (SNPs) are crucial genetic markers in forensic science.
  • Conventional genotyping methods for SNPs have limitations in throughput and speed.
  • Nanopore sequencing offers a potential alternative for rapid genetic analysis.

Purpose of the Study:

  • To investigate the feasibility of forensic SNP genotyping using nanopore sequencing.
  • To evaluate the performance of nanopore sequencing for tri-allelic SNPs in a forensic context.
  • To develop and optimize workflows for multiplexed nanopore sequencing of forensic samples.

Main Methods:

  • Development of multiplex PCR assays for 16 tri-allelic SNP loci.
  • Application of Oxford Nanopore Technologies' 1D and 1D2 sequencing workflows.
  • Genotyping of human genomic reference controls and simulated casework samples (GEDNAP).

Main Results:

  • Successful genotyping of most tri-allelic SNP loci using nanopore sequencing.
  • Identification of specific loci that present challenges for nanopore sequencing.
  • Demonstration of multiplexing capability with five samples per sequencing run.

Conclusions:

  • Nanopore sequencing is technically feasible for forensic tri-allelic SNP genotyping.
  • Avoiding problematic loci enhances the reliability of nanopore-based forensic analysis.
  • This technology holds promise for advancing forensic casework capabilities.