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Related Concept Videos

Next-generation Sequencing03:00

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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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Sequencing of mRNA from Whole Blood using Nanopore Sequencing
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Forensic SNP Genotyping using Nanopore MinION Sequencing.

Senne Cornelis1, Yannick Gansemans1, Lieselot Deleye1

  • 1Laboratory of Pharmaceutical Biotechnology, Ghent University Ghent, Belgium.

Scientific Reports
|February 4, 2017
PubMed
Summary
This summary is machine-generated.

Oxford Nanopore sequencing shows promise for forensic genotyping using the 52 SNP-plex assay. While most single nucleotide polymorphism (SNP) loci were accurate, homopolymer regions pose challenges for nanopore sequencing in forensic DNA analysis.

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Area of Science:

  • Genomic Sciences
  • Forensic Science
  • Biotechnology

Background:

  • Next-generation sequencing technologies are advancing rapidly.
  • Oxford Nanopore Technologies (ONT) offers the MinION nanopore sequencer, a portable sequencing device.
  • Forensic DNA analysis relies on accurate genotyping for identification.

Purpose of the Study:

  • To evaluate the MinION nanopore sequencer for forensic DNA genotyping.
  • To assess the performance of the 52 SNP-plex assay with ONT sequencing.
  • To identify potential challenges in nanopore-based forensic SNP genotyping.

Main Methods:

  • Utilized the ONT MinION sequencer.
  • Employed the 52 SNP-plex assay for genotyping.
  • Analyzed the forensic female DNA standard 9947A.
  • Examined single nucleotide polymorphism (SNP) loci for genotyping accuracy.

Main Results:

  • Accurate genotyping was achieved for all but one locus.
  • Several SNP loci presented difficulties for robust genotyping.
  • Problematic loci were associated with homopolymers in flanking sequences.
  • These homopolymer-associated issues align with findings from other sequencing technologies.

Conclusions:

  • Nanopore sequencing is technically feasible for forensic genotyping with the 52 SNP-plex assay.
  • Avoiding problematic loci, particularly those with homopolymers, is crucial for reliable results.
  • ONT MinION sequencing holds potential for future forensic applications.