Population and Performance Analyses of Four Major Populations with Illumina's FGx Forensic Genomics System

• NCJ Number: 252119
• Journal: Forensic Science International-Genetics Volume: 30 Dated: September 2017 Pages: 81-92
• Author(s): Jennifer D. Churchill; Nicole M.m. Novroski; Jonathan L. King; Lay Hong Seah; Bruce Budowle
• Date Published: September 2017
• Length: 12 pages
• Grant Number(s): 2015-DN-BX-K067
• Agencies: NIJ-Sponsored
• Publication Type: Research (Applied/Empirical); Report (Study/Research); Report (Grant Sponsored); Program/Project Description
• Award: Enhancing Mixture Interpretation with Highly Informative STRs

Annotation

The MiSeq FGx Forensic Genomics System (Illumina) enables amplification and massively parallel sequencing of 59 STRs, 94 identity informative SNPs, 54 ancestry informative SNPs, and 24 phenotypic informative SNPs. The project reported in this article generated allele frequency and population statistics data for the 172 SNP loci included in this panel on four major population groups (Chinese, African Americans, US Caucasians, and Southwest Hispanics).

Abstract

Single-locus and combined random match probability values were generated for the identity informative SNPs. The average combined STR and identity informative SNP random match probabilities (assuming independence) across all four populations were 1.75E-67 and 2.30E-71 with length-based and sequence-based STR alleles, respectively. Ancestry and phenotype predictions were obtained using the ForenSeq Universal Analysis System (UAS; Illumina) based on the ancestry informative and phenotype informative SNP profiles generated for each sample. Additionally, performance metrics, including profile completeness, read depth, relative locus performance, and allele coverage ratios, were evaluated and detailed for the 725 samples included in this study. Although some genetic markers included in this panel performed notably better than others, performance across populations was generally consistent. The performance and population data included in this study indicate that accurate and reliable profiles were generated and provide valuable background information for laboratories considering internal validation studies and implementation. (Publisher abstract modified)