Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification.
The potential of Massively Parallel Sequencing (MPS) technology to vastly expand the capabilities of human identification led to the emergence of different MPS platforms that use forensically relevant genetic markers. Two of the MPS platforms that are currently available are the MiSeq®FGx™ Forensic Genomics System (Illumina) and the HID-Ion Personal Genome Machine (PGM)™ (Thermo Fisher Scientific). These are coupled with the ForenSeq™ DNA Signature Prep kit (Illumina) and the HID-Ion AmpliSeq™ Identity Panel (Thermo Fisher Scientific), respectively. In this study, we compared the genotyping performance of the two MPS systems based on 83 SNP markers that are present in both MPS marker panels. Results show that MiSeq®FGx™ has greater sample-to-sample variation than the HID-Ion PGM™ in terms of read counts for all the 83 SNP markers. Allele coverage ratio (ACR) values show generally balanced heterozygous reads for both platforms. Two and four SNP markers from the MiSeq®FGx™ and HID-Ion PGM™, respectively, have average ACR values lower than the recommended value of 0.67. Comparison of genotype calls showed 99.7% concordance between the two platforms.
Program on Forensics and Ethnicity, Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines.|DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman, Quezon City, 1101, Philippines.
Dame Loveliness T
0000-0002-8519-2982
DL
Apaga
Program on Forensics and Ethnicity, Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines.|DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman, Quezon City, 1101, Philippines.|Philippine Council for Industry, Energy and Emerging Technology Research and Development Department of Science and Technology, Bicutan, Taguig City, 1631, Philippines.
Sheila E
SE
Dennis
Program on Forensics and Ethnicity, Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines.|DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman, Quezon City, 1101, Philippines.
Jazelyn M
0000-0003-0223-4532
JM
Salvador
Program on Forensics and Ethnicity, Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines.|DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman, Quezon City, 1101, Philippines.
Gayvelline C
GC
Calacal
Program on Forensics and Ethnicity, Philippine Genome Center, University of the Philippines, Diliman, Quezon City, 1101, Philippines. madeungria@up.edu.ph.|DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines, Diliman, Quezon City, 1101, Philippines. madeungria@up.edu.ph.
Maria Corazon A
MC
De Ungria
D016172:DNA Fingerprinting; D053803:Forensic Genetics / Q000295:instrumentation*; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000295:instrumentation*