Systematic analysis of population studies performed with the ForenSeq™ DNA Signature Prep kit

Area of Science:

• Forensic genetics
• Population genetics
• Massively parallel sequencing (MPS)

Background:

• Forensic laboratories increasingly use sequence-based population studies for massively parallel sequencing (MPS).
• Existing data are limited for African populations, despite their high genetic diversity.
• MPS offers enhanced allelic representation compared to capillary electrophoresis (CE) methods.

Purpose of the Study:

• To conduct a systematic review and meta-analysis of forensic MPS population studies.
• To assess global forensic sequence data, with a focus on African and underrepresented populations.
• To quantify the increase in genetic variation (allele counts and random match probability) using MPS.

Main Methods:

• Systematic review of three databases, identifying 40 articles for review and 20 for meta-analysis.
• Meta-analysis focused on autosomal short tandem repeat (A-STR) markers using allele counts and random match probability (RMP).
• Data compiled from studies using the ForenSeq™ DNA Signature Prep kit.

Main Results:

• Most studies (65%) were from high-income countries; none were from Africa.
• Mean allele counts increased by 53.08% for A-STR markers with MPS compared to length-based analyses.
• African ancestry groups exhibited the greatest increase in allele counts and reduction in RMP.

Conclusions:

• MPS significantly enhances genetic variation data, particularly for African populations.
• There is a critical underrepresentation of African populations in current MPS forensic studies.
• Further research and data generation are essential to address this gap and support forensic applications in Africa.