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Related Concept Videos

RNA-seq03:21

RNA-seq

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. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
Sanger Sequencing01:57

Sanger Sequencing

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...
Next-generation Sequencing03:00

Next-generation Sequencing

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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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Whole exome sequencing.

Donald A Glass1, And Anthony A Nuara

  • 1University of Texas Southwestern Medical Center, Dallas, TX 75390-9069, USA. donald.glass@utsouthwestern.edu

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PubMed
Summary
This summary is machine-generated.

This journal introduces an annual review of significant methodologies in medical research and clinical practice. The aim is to simplify complex scientific language for broader understanding and application in disease investigation.

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Area of Science:

  • Medical research
  • Clinical practice
  • Scientific methodology

Background:

  • Journals often feature complex methodologies.
  • Accessibility of scientific information is crucial for progress.
  • Understanding novel techniques aids research and clinical applications.

Purpose of the Study:

  • To annually highlight significant methodologies in the journal's domains.
  • To feature methods used clinically or in research.
  • To present promising diagnostic, therapeutic, or investigative tools.

Main Methods:

  • Annual review of scientific literature.
  • Selection of methodologies based on clinical or research significance.
  • Focus on methods with potential for disease diagnosis, treatment, or investigation.

Main Results:

  • Identification and presentation of key methodologies.
  • Explanation of methods' relevance to specific diseases.
  • Highlighting the promise of new investigative tools.

Conclusions:

  • The journal will annually feature impactful scientific methodologies.
  • Emphasis on practical applications in clinical and research settings.
  • Commitment to clear, accessible language for all readers.