Ancestry Inference Using the ForenSeq^TM DNA Signature Prep Kit.

Area of Science:

• Forensic Genomics
• Population Genetics
• Human Ancestry

Background:

• Accurate ancestry inference is crucial in forensic science.
• Evaluating the efficacy of genetic markers for population differentiation is an ongoing area of research.

Purpose of the Study:

• To assess the performance of 56 ancestry informative single nucleotide polymorphism (aiSNP) genetic markers in the ForenSeq DNA Signature Prep Kit for ancestry inference.
• To determine the kit's ability to differentiate between diverse populations, including Chinese ethnic groups and a Nigerian population.

Main Methods:

• Utilized the ForenSeq DNA Signature Prep Kit for library construction and the MiSeq FGx Forensic Genomics System for sequencing.
• Applied principal component analysis (PCA), Structure, and likelihood ratio methods to genotyping data of 56 aiSNP markers.
• Analyzed genetic relationships and inferred ancestral origins across five populations: Han, Mongolian, Tibetan, Uygur, and Nigerian.

Main Results:

• The 56 aiSNP markers successfully distinguished the four Chinese populations from the Nigerian population at an intercontinental level.
• Individuals from the Xinjiang Uygur autonomous region showed mixed ancestry and were distinguishable from other Chinese populations.
• The system was unable to effectively differentiate between the Hebei Han, Inner Mongolia Mongolian, and Tibet Tibetan populations.

Conclusions:

• The 56 aiSNP markers in the ForenSeq DNA Signature Prep Kit provide accurate ancestry inference at the intercontinental level.
• The current marker set is insufficient for distinguishing between closely related Chinese subpopulations.