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Related Concept Videos

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Infinium Assay for Large-scale SNP Genotyping Applications
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Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human

Dame Loveliness T Apaga1,2, Sheila E Dennis1,2,3, Jazelyn M Salvador1,2

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Massively Parallel Sequencing (MPS) platforms offer advanced human identification. This study compared Illumina

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Area of Science:

  • Forensic genetics
  • Genomics
  • Human identification

Background:

  • Massively Parallel Sequencing (MPS) technology significantly enhances human identification capabilities.
  • Forensic genomics utilizes MPS platforms with genetic markers for identification.
  • Key MPS platforms include Illumina's MiSeq FGx and Thermo Fisher Scientific's HID-Ion PGM.

Purpose of the Study:

  • To compare the genotyping performance of two leading MPS platforms: MiSeq FGx and HID-Ion PGM.
  • To evaluate performance based on 83 shared SNP markers using specific forensic kits.

Main Methods:

  • Comparative analysis of genotyping performance between MiSeq FGx and HID-Ion PGM systems.
  • Utilized 83 SNP markers common to both ForenSeq DNA Signature Prep (Illumina) and HID-Ion AmpliSeq Identity Panel (Thermo Fisher Scientific).
  • Assessed sample-to-sample variation in read counts and Allele Coverage Ratio (ACR).

Main Results:

  • MiSeq FGx exhibited greater sample-to-sample variation in read counts compared to HID-Ion PGM.
  • Both platforms demonstrated generally balanced heterozygous reads, with ACR values mostly above the 0.67 threshold.
  • Two and four SNP markers on MiSeq FGx and HID-Ion PGM, respectively, had average ACR values below 0.67.
  • High concordance (99.7%) was observed between the genotype calls of the two platforms.

Conclusions:

  • Both MPS platforms show strong performance for forensic genetic analysis.
  • Minor differences in sample variation and specific marker performance exist between MiSeq FGx and HID-Ion PGM.
  • The high concordance suggests both systems are reliable for forensic applications.