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Development and validation of a custom panel including 114 InDels using massively parallel sequencing for forensic
Chengliang Yang1, Meiyun He1, Changhui Liu2
1Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, P. R. China.
Electrophoresis
|August 25, 2023
Summary
This study introduces a new Massively Parallel Sequencing (MPS) Insertion/deletion polymorphism (InDel) panel for forensic science. The validated 114-InDel panel demonstrates high sensitivity, robustness, and discriminatory power for individual identification and kinship analysis.
Area of Science:
- Forensic Science
- Genetics
- Molecular Biology
Background:
- Insertion/deletion polymorphisms (InDels) offer unique advantages for forensic genotyping, including low mutation rates and minimal stutter artifacts.
- Massively Parallel Sequencing (MPS) technology has emerged as a powerful tool in forensic applications, enabling high-throughput analysis.
- Existing forensic genetic markers can be complemented by InDel analysis for enhanced individual identification and kinship investigations.
Purpose of the Study:
- To develop and validate a custom MPS InDel panel for forensic applications.
- To assess the panel's performance in terms of sensitivity, inhibitor tolerance, degraded DNA, species specificity, and concordance.
- To evaluate the discriminatory and exclusionary power of the developed InDel markers.
Main Methods:
- Development of a custom MPS panel comprising 114 InDels (77 autosomal, 32 X-chromosomal, 5 Y-chromosomal).
- Validation experiments included sensitivity testing (minimum 0.25 ng DNA), inhibitor testing (humic acid, calcium, EDTA, indigo), degraded DNA analysis (16-day formalin-fixed hearts), species specificity, concordance, and repeatability.
- Statistical evaluation of combined power of discrimination and combined power of exclusion for autosomal and X-chromosomal InDels.
Main Results:
- The MPS InDel panel successfully genotyped samples with as little as 0.25 ng of DNA.
- The panel demonstrated robustness in the presence of common forensic inhibitors and could detect loci in degraded DNA samples.
- High combined power of discrimination (1-3.9951 × 10-32) and exclusion (1-4.2956 × 10-7) were observed for autosomal InDels.
- Excellent combined mean exclusion chances were achieved for X-chromosomal InDels (0.99999 in trios, 0.99904 in duos).
Conclusions:
- The newly developed MPS multiplex InDel system is a robust and sensitive tool for forensic applications.
- This panel significantly enhances capabilities for individual identification and kinship analyses.
- The validation results support the utility of this MPS InDel panel in diverse forensic casework.
