Troubleshooting and challenges of Next-generation sequencing technology in forensic use

Eugenio D'Orio, Aurora Toso, Paola Montagna, Maria Denise Gemmellaro

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Before the implementation of Next-generation sequencing (NGS) technology into forensic practice and prior to its use in casework, its performance needs to be validated. Validation studies are needed so that procedural limitations are defined, and to prove the robustness of the method, its repeatability and reliability. Once the process of validation is completed, standard operating procedures and interpretation guidelines can be established, and NGS can be used routinely in the laboratory workflow. The FBI updated the Quality Assurance Standards for forensic DNA testing laboratories in 2020. Laboratories performing forensic DNA testing or utilizing the Combined DNA Index System must follow these standards to ensure the quality and integrity of the data generated. The Scientific Working Group on DNA Analysis Methods also updated their validation and interpretation guidelines to address NGS technologies. These documents are meant to assist forensic laboratories in the process of validation and implementation of NGS workflows.

Original languageEnglish
Title of host publicationNext Generation Sequencing (NGS) Technology in DNA Analysis
PublisherElsevier
Pages471-484
Number of pages14
ISBN (Electronic)9780323991445
ISBN (Print)9780323993807
DOIs
StatePublished - 1 Jan 2023

Keywords

  • Developmental validation
  • FBI quality assurance standards
  • Internal validation
  • SWGDAM guidelines
  • Validation studies

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