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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Autores principales: Dame Loveliness T. Apaga, Sheila E. Dennis, Jazelyn M. Salvador, Gayvelline C. Calacal, Maria Corazon A. De Ungria
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Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/1da2ce6d673941bf8608061a44c7c134
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spelling 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)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle 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
description 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
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