Massively parallel sequencing techniques for forensics: A review.

Area of Science:

• Forensic Genetics
• Molecular Biology
• Biotechnology

Background:

• DNA sequencing technologies have evolved significantly from Sanger sequencing to Next-Generation Sequencing (NGS) and Massively Parallel Sequencing (MPS).
• These advanced sequencing techniques are increasingly adopted in various scientific fields, including biotechnology, virology, and medical diagnostics.
• Recent surge in publications indicates growing interest and application of NGS in forensic science.

Purpose of the Study:

• To review the evolution of DNA sequencing technologies, from first to third generation.
• To focus on recent advancements in human DNA analysis using NGS and MPS for forensic applications.
• To highlight the utility of advanced sequencing in challenging forensic cases involving limited or degraded DNA.

Main Methods:

• Description of first, second, and third generation sequencing techniques.
• Focus on Next-Generation Sequencing (NGS) and Massively Parallel Sequencing (MPS) methodologies.
• Review of applications in human DNA analysis for forensic casework.

Main Results:

• NGS and MPS enable sequencing of DNA repeats for polymorphisms beyond standard STR profiling.
• SNP sequencing provides additional forensic information such as ancestry, paternity, and phenotype.
• MPS systems effectively analyze limited or highly degraded DNA samples, crucial for crime scene investigations.
• Mitochondrial DNA sequencing offers a valuable alternative for maternal lineage analysis when autosomal DNA is insufficient.

Conclusions:

• Advanced DNA sequencing techniques like NGS and MPS are becoming indispensable tools in forensic science.
• These technologies enhance the ability to analyze challenging DNA samples and extract comprehensive genetic profiles.
• The application of NGS in forensics promises to improve casework outcomes and expand investigative capabilities.