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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...
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.
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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...
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

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.
Challenges of the Maxam-Gilbert Method
The...

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Related Experiment Video

Updated: May 30, 2026

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

[Exome sequencing and its application].

Xin Zhang1, Min Li, Xue-Jun Zhang

  • 1Institute of Dermatology of Anhui Medical University, Hefei 230032, China. zhangxin68619@163.com

Yi Chuan = Hereditas
|August 12, 2011
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies (GWAS) identify genetic variants but have limitations. Exome sequencing offers a powerful alternative for detecting disease-related variations and aiding clinical diagnosis.

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Targeted RNA Sequencing Assay to Characterize Gene Expression and Genomic Alterations

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Area of Science:

  • Genetics
  • Genomics
  • Molecular Biology

Background:

  • Genome-wide association studies (GWAS) have identified numerous genetic variants linked to complex diseases and traits.
  • However, GWAS methods possess limitations including false positives/negatives, poor detection of rare/structural variations, and few single nucleotide polymorphisms (SNPs) in functional regions.

Purpose of the Study:

  • To address the limitations of GWAS by leveraging next-generation sequencing technologies.
  • To explore the utility of exome sequencing for identifying genetic variations associated with Mendelian and complex diseases.

Main Methods:

  • Utilizing high-throughput sequencing technology to analyze the exome, which constitutes approximately 1% of the human genome.
  • Focusing on variations within exons to capture a significant portion of disease-related genetic changes.
  • Employing exome sequencing to detect both common and rare genetic variations.

Main Results:

  • Exome sequencing effectively identifies disease-associated genetic variations, overcoming limitations of traditional GWAS.
  • This method is highly effective in detecting both common and rare variations within the coding regions of the genome.
  • Exome sequencing proves advantageous for pinpointing genes responsible for Mendelian disorders and complex diseases.

Conclusions:

  • Exome sequencing represents a powerful and efficient strategy for genetic variation discovery in disease research.
  • The findings highlight the potential of exome sequencing to significantly contribute to the clinical diagnosis of various diseases.
  • This approach offers a valuable tool for understanding disease mechanisms and improving patient outcomes.