Next generation sequencing of SNPs using the HID-Ion AmpliSeq™ Identity Panel on the Ion Torrent PGM™ platform

Guo, Fei; Zhou, Yajuan; He, Song; Zhao, Jinling; Shen, Haihong; Zhao, Bi; Feng, Lei; Jiang, Xiaobei

doi:10.1016/j.fsigen.2016.07.021

Cited by 70 publications

(55 citation statements)

References 33 publications

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“…Multiple studies have shown that heterozygote balance in a sample from a single heterozygous individual can range from 40%-60% [4,5,7,8]; however, it is not possible to define exact limits for homozygotes and heterozygotes in 1:1 mixtures. This is because the balance varies depending on the relative amounts of DNA from each individual and on whether the minor contributor is the homozygote or the heterozygote [5].…”

Section: Discussionmentioning

confidence: 99%

“…In both cases 1 and 4, it was determined that the genotype profiles were identical to that of DNA from a single individual who is either homozygous (case 1) or heterozygous (case 4), and so these loci could not provide significant information. For case 2, the heterozygote balance was estimated from the allele ratio of first/[first+second], and the estimates were evaluated with a threshold of 0.65 [8]. Twelve loci were identified that had a ratio >0.65, and this included five loci reported as underperformed [8]; the five underperforming loci were rs7520386 (serum 1), rs4530059 (serum 3), rs1493232 (serum 3), rs4847034 (serum 4), and rs2046361 (serum 6) (Fig.…”

Section: Autosomal Snp Detection In Maternal Serummentioning

confidence: 99%

“…High-throughput nucleotide sequencing identification and has been evaluated for coverage, heterozygote balance, and sensitivity in multiple validation studies [4][5][6][7][8]. This panel can reliably provide genotype information given small amounts of template DNA, as well as allow quantitative analyses.…”

Section: Introductionmentioning

confidence: 99%

“…Here, we report our findings on fDNA detection in maternal serum samples using the HIDIon AmpliSeq TM Identity Panel. Because of the absence of reference information for fetuses and mothers, interpretation of the results was performed using criteria from previous studies [5,8].…”

Section: Introductionmentioning

confidence: 99%

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SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

et al. 2017

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Section: Discussionmentioning

confidence: 99%

Section: Autosomal Snp Detection In Maternal Serummentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

et al. 2017

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“…Em um estudo realizado realizado por Guo e colaboradores, SNPs foram identificados usando a plataforma Ion Torrent PGM TM e o kit HID-Ion AmpliSeq TM Identity Panel [26].…”

Section: Testes De Paternidadeunclassified

Determinação pré-natal não invasiva de paternidade utilizando micro-haplótipos

Wang¹

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Use of Next‐Generation Sequencing in Forensic Genetics

Børsting

Morling

2017

Encyclopedia of Life Sciences

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The main purpose of forensic science institutions is to provide scientifically based investigations to the judicial system and assist society as a whole with objective analyses of evidence. Ten years ago, the invention of clonal amplification by emulsion PCR or bridge PCR inspired a technical revolution in DNA sequencing commonly known as next‐generation sequencing (NGS). New methods and platforms were invented, all with the same purpose of sequencing massive numbers of DNA molecules simultaneously. These methods are of obvious interest to forensic genetic practitioners, who are frequently faced with the challenge of genotyping limited and degraded DNA material extracted from irreplaceable trace samples. NGS may be superior to the existing techniques and offers new exiting possibilities to the end users of forensic investigations. Key Concepts Next‐generation sequencing (NGS) is based on simultaneous clonal amplification of millions of individual DNA molecules and parallel sequencing of the generated products. Fragment length analyses of PCR‐amplified short tandem repeats (STRs) have been the preferred method for human identification in forensic genetic case work for more than two decades. The multiplexing capability of PCR‐NGS and sequencing capacity of NGS platforms make it possible to type different types of markers (STRs, SNPs and INDELs) in one assay, which increases the available information, saves time and reduces the overall cost of the investigation. Human identification and forensic phenotyping may be accomplished simultaneously by typing human identification and phenotypical markers in one PCR‐NGS assay. Detailed sequence information of STRs increases the statistical weight of the DNA evidence and may aid mixture interpretation. Genome or transcriptome sequencing of samples from deceased makes it possible to combine forensic pathology with medical genetics and forensic toxicology with pharmacogenetics.

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Next generation sequencing of SNPs using the HID-Ion AmpliSeq™ Identity Panel on the Ion Torrent PGM™ platform

Cited by 70 publications

References 33 publications

SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

Determinação pré-natal não invasiva de paternidade utilizando micro-haplótipos

Use of Next‐Generation Sequencing in Forensic Genetics

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