Evaluation of the Qiagen 140-SNP forensic identification multiplex for massively parallel sequencing

• Published in: Forensic science international : genetics Vol. 28; pp. 35 - 43
• Main Authors: de la Puente, M, Phillips, C, Santos, C, Fondevila, M, Carracedo, Á, Lareu, M.V
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.05.2017
• Subjects: DNA Fingerprinting; Forensic identification; Genotype; Haplotypes; High-Throughput Nucleotide Sequencing - instrumentation; Humans; Massively parallel sequencing (MPS); Multiplex Polymerase Chain Reaction; Pathology; Polymorphism, Single Nucleotide; Qiagen SNP-ID panel; SNPs; SNPs; Forensic identification; Qiagen SNP-ID panel; Massively Parallel Sequencing (MPS); Massively parallel sequencing (MPS)
• ISSN: 1872-4973; 1878-0326
• DOI: 10.1016/j.fsigen.2017.01.012

Highlights • A new 140-SNP PCR multiplex and library preparation kit has been developed by Qiagen for massively parallel sequencing (MPS), applicable to each of the currently available MPS systems. • The kit was evaluated for forensic use by testing the kit with the Ion PGM™ MPS system and assessing sequence quality, genotyping concordance and forensic sensitivity to mixtures and low-level DNA. • The Qiagen kit produced high quality sequence at high coverage and reliable genotypes. Full genotyping concordance was obtained for control DNA samples listed by 1000 Genomes and previously analyzed by SNaPshot or Ion PGM™ MPS. • When analyzing low-level DNA certain component SNPs need careful sequence scrutiny to ensure genotype calls have been made correctly. This affects simple application of the full 140-SNP panel.