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Related Concept Videos

Sanger Sequencing01:57

Sanger Sequencing

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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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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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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genetic Testing Requires NGS and Sanger Methodologies.

Lawrence J Jennings1, Dawn Kirschmann1

  • 1Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.

Pediatric Neurology Briefs
|September 22, 2016
PubMed
Summary
This summary is machine-generated.

Whole-exome sequencing identified new SCN1A gene mutations in rare epilepsy syndromes. This advanced genetic testing offers hope for diagnosing patients previously missed by standard methods.

Keywords:
NGSSCN1ASanger

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Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • Dravet syndrome is a severe form of epilepsy often linked to SCN1A gene mutations.
  • Previous genetic testing using Sanger sequencing had failed to identify SCN1A mutations in some patients.
  • The EuroEPINOMICS rare epilepsy syndromes Dravet working group aimed to re-evaluate these cases.

Discussion:

  • Whole-exome sequencing (WES) offers a more comprehensive approach to genetic analysis compared to Sanger sequencing.
  • Identifying SCN1A mutations in previously negative cases expands our understanding of epilepsy genetics.
  • This highlights the limitations of older sequencing technologies for complex genetic disorders.

Key Insights:

  • Whole-exome sequencing successfully identified SCN1A gene mutations in 31 trios with rare epilepsy syndromes, despite prior negative Sanger sequencing results.
  • This finding underscores the utility of WES in diagnosing genetic epilepsy disorders.
  • The study expands the known mutation spectrum within the SCN1A gene.

Outlook:

  • Further research should focus on the functional impact of these newly identified SCN1A mutations.
  • Implementing WES as a first-line diagnostic tool could improve early diagnosis and management of rare epilepsy syndromes.
  • This approach may be applicable to other rare genetic disorders with challenging diagnoses.