Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification
Abstract 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™...
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2017
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oai:doaj.org-article:1da2ce6d673941bf8608061a44c7c1342021-12-02T15:05:41ZComparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification10.1038/s41598-017-00510-32045-2322https://doaj.org/article/1da2ce6d673941bf8608061a44c7c1342017-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-00510-3https://doaj.org/toc/2045-2322Abstract 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.Dame Loveliness T. ApagaSheila E. DennisJazelyn M. SalvadorGayvelline C. CalacalMaria Corazon A. De UngriaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-6 (2017) |
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Medicine R Science Q Dame Loveliness T. Apaga Sheila E. Dennis Jazelyn M. Salvador Gayvelline C. Calacal Maria Corazon A. De Ungria Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
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Abstract 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. |
format |
article |
author |
Dame Loveliness T. Apaga Sheila E. Dennis Jazelyn M. Salvador Gayvelline C. Calacal Maria Corazon A. De Ungria |
author_facet |
Dame Loveliness T. Apaga Sheila E. Dennis Jazelyn M. Salvador Gayvelline C. Calacal Maria Corazon A. De Ungria |
author_sort |
Dame Loveliness T. Apaga |
title |
Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
title_short |
Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
title_full |
Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
title_fullStr |
Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
title_full_unstemmed |
Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification |
title_sort |
comparison of two massively parallel sequencing platforms using 83 single nucleotide polymorphisms for human identification |
publisher |
Nature Portfolio |
publishDate |
2017 |
url |
https://doaj.org/article/1da2ce6d673941bf8608061a44c7c134 |
work_keys_str_mv |
AT damelovelinesstapaga comparisonoftwomassivelyparallelsequencingplatformsusing83singlenucleotidepolymorphismsforhumanidentification AT sheilaedennis comparisonoftwomassivelyparallelsequencingplatformsusing83singlenucleotidepolymorphismsforhumanidentification AT jazelynmsalvador comparisonoftwomassivelyparallelsequencingplatformsusing83singlenucleotidepolymorphismsforhumanidentification AT gayvellineccalacal comparisonoftwomassivelyparallelsequencingplatformsusing83singlenucleotidepolymorphismsforhumanidentification AT mariacorazonadeungria comparisonoftwomassivelyparallelsequencingplatformsusing83singlenucleotidepolymorphismsforhumanidentification |
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1718388752749953024 |