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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.
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Cis-regulatory Sequences02:02

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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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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Frustration occurs when people are obstructed or prevented from achieving a desired goal or fulfilling a perceived need. For example, when someone's input is ignored in a discussion, it can lead to feelings of frustration. Conflict, however, arises from opposing interests, goals, or actions. Conflicts can take various forms based on the nature of these opposing desires or goals.
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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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Spatial Profiling of Protein and RNA Expression in Tissue: An Approach to Fine-Tune Virtual Microdissection
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Anophthalmia including next-generation sequencing-based approaches.

Philippa Harding1, Brian P Brooks2, David FitzPatrick3

  • 1UCL Institute of Ophthalmology, London, UK.

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Summary

This study reviews DNA-based testing for genetic diseases. It assesses the analytical and clinical validity and utility of gene mutation tests for diagnosis, prediction, and prenatal screening.

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Area of Science:

  • Medical Genetics
  • Molecular Diagnostics

Background:

  • Genetic testing plays a crucial role in diagnosing and managing inherited diseases.
  • Understanding the validity and utility of these tests is essential for clinical practice.

Purpose of the Study:

  • To review the analytical and clinical validity of DNA-based testing for gene mutations.
  • To evaluate the clinical utility of these tests in diagnostic, predictive, and prenatal settings.
  • To assess the utility for risk assessment in relatives.

Main Methods:

  • Systematic review of DNA-based testing for genetic diseases.
  • Analysis of data from diagnostic, predictive, and prenatal testing.
  • Evaluation of gene-specific information including OMIM numbers and cytogenetic locations.

Main Results:

  • Detailed information on disease names, synonyms, and OMIM numbers is provided.
  • Core and additional genes analyzed by Sanger sequencing and next-generation sequencing are identified.
  • Analytical and clinical validity and utility data are compiled for various genes.

Conclusions:

  • DNA-based testing offers valuable insights for diagnosing and managing genetic disorders.
  • The review provides a comprehensive resource for understanding the utility of genetic testing.
  • This information aids in clinical decision-making for patients and families.