The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework

Area of Science:

• Forensic Genetics
• Population Genetics
• Mitochondrial DNA Analysis

Background:

• Mitochondrial DNA (mtDNA) population data is crucial for forensic science but scarce for certain populations.
• Limited data hinders the accurate evaluation of forensic evidence, particularly haplotype rarity assessments.
• Previous mtDNA population studies often lacked comprehensive data accessibility.

Purpose of the Study:

• To expand and improve the availability of mtDNA population data for forensic applications.
• To consolidate mtDNA lineage information from the Iberian and South American regions.
• To enhance the EMPOP database with harmonized and quality-controlled datasets.

Main Methods:

• Collaborative data collection involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) and EMPOP.
• Compilation and harmonization of 1019 mtDNA haplotypes from diverse Iberian and Latin American populations.
• Rigorous review process to identify and correct data ambiguities, primarily transcription errors.

Main Results:

• A total of 1019 mtDNA haplotypes from Iberia and Latin America were collected, reviewed, and harmonized.
• The collaborative effort identified and corrected 41 data ambiguities, highlighting transcription errors in manual documentation.
• The quality of individual mtDNA datasets was significantly improved through this GHEP-EMPOP collaboration.

Conclusions:

• The GHEP-EMPOP collaboration successfully enhanced the quality and accessibility of mtDNA population data.
• The consolidated dataset serves as a valuable resource for forensic investigations requiring haplotype rarity assessments.
• Improved mtDNA data contributes to more robust evaluations of forensic evidence in diverse populations.