Comparison of massively parallel sequencing to capillary electrophoresis for short tandem repeat genotyping of trace DNA

Electrophoresis. 2024 Mar;45(5-6):451-462. doi: 10.1002/elps.202300145. Epub 2023 Dec 12.

Abstract

In forensic genetics, massively parallel sequencing (MPS) offers several advantages over the current golden standard, capillary electrophoresis (CE): additional sequence information, shorter amplicon lengths, and the simultaneous analysis of many markers. These benefits result in a reduced number of reactions necessary while improving the amount of data obtained, thereby conserving valuable sample extracts. This proves particularly advantageous for the analysis of trace DNA. This study assessed the suitability of MPS for short tandem repeat (STR) typing of low template samples compared with results obtained through CE. The MPS genotypes showed higher concordance to reference genotypes, with donor alleles being more frequently assigned to be the major contributor, meeting the requirements for database entry. However, the MPS workflow is more time-consuming and associated with higher costs.

Keywords: capillary electrophoresis; forensic; low template DNA; massively parallel sequencing; trace DNA.

MeSH terms

  • DNA / analysis
  • DNA / genetics
  • DNA Fingerprinting*
  • Electrophoresis, Capillary / methods
  • Genotype
  • High-Throughput Nucleotide Sequencing* / methods
  • Microsatellite Repeats / genetics
  • Sequence Analysis, DNA

Substances

  • DNA