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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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RNA-seq03:21

RNA-seq

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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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Sanger Sequencing01:57

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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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Maxam-Gilbert Sequencing01:05

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Reference standards for next-generation sequencing.

Simon A Hardwick1,2, Ira W Deveson1,3, Tim R Mercer1,2,4

  • 1Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.

Nature Reviews. Genetics
|June 20, 2017
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) is vital for diagnosing genetic diseases. Using reference standards helps overcome challenges in interpreting complex NGS data and ensures accurate clinical results.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Clinical Diagnostics

Background:

  • Next-generation sequencing (NGS) offers comprehensive genomic investigation for disease-associated genetic feature diagnosis.
  • Interpreting large and complex NGS data is challenging due to technical errors in sample preparation, sequencing, and analysis.

Purpose of the Study:

  • To highlight the importance of reference standards in addressing NGS data interpretation challenges.
  • To emphasize the role of statistical principles in ensuring rigorous NGS data analysis for clinical applications.

Main Methods:

  • Utilizing well-characterized genetic materials as reference standards.
  • Employing synthetic spike-in controls for NGS measurement calibration.
  • Applying statistical principles for rigorous data evaluation.

Main Results:

  • Reference standards aid in understanding and mitigating technical errors in NGS.
  • These standards calibrate NGS measurements and evaluate diagnostic performance.
  • Informed use of reference standards enhances the reliability of NGS data analysis.

Conclusions:

  • Reference standards are crucial for overcoming the complexities of NGS data interpretation.
  • Rigorous analysis, guided by statistical principles and reference standards, is essential for the clinical utility of NGS.
  • The effective implementation of reference standards will facilitate the future clinical adoption of NGS technologies.