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Related Concept Videos

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.
Genome Annotation and Assembly03:36

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...

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Related Experiment Video

Updated: May 26, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)
09:06

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)

Published on: October 5, 2018

Linkage analysis in the next-generation sequencing era.

Joan E Bailey-Wilson1, Alexander F Wilson

  • 1Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA. jebw@mail.nih.gov

Human Heredity
|December 23, 2011
PubMed
Summary
This summary is machine-generated.

Linkage analysis helps identify rare genetic variants with large effects on traits and diseases. Combining this with next-generation sequencing enables precise variant discovery, advancing genetic research.

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Collection and Extraction of Saliva DNA for Next Generation Sequencing
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Collection and Extraction of Saliva DNA for Next Generation Sequencing

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Last Updated: May 26, 2026

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)
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High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture (4C-seq)

Published on: October 5, 2018

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Collection and Extraction of Saliva DNA for Next Generation Sequencing
06:58

Collection and Extraction of Saliva DNA for Next Generation Sequencing

Published on: August 27, 2014

Area of Science:

  • Genetics
  • Bioinformatics
  • Genomic Medicine

Background:

  • Linkage analysis detects co-segregation of alleles with phenotypes in families.
  • Traditional linkage studies excel at finding large-effect variants but struggle with rare variants.
  • Genome-wide association studies identify common variants with small effects, often explaining limited disease risk.

Purpose of the Study:

  • To review linkage analysis methods and their application in identifying rare, large-effect variants.
  • To highlight the synergy between linkage analysis and next-generation sequencing for variant discovery.
  • To discuss the interpretation of whole-exome and whole-genome sequencing data in the context of linkage findings.

Main Methods:

  • Review of established linkage analysis techniques.
  • Integration of next-generation sequencing (NGS) for high-throughput DNA sequencing.
  • Application of combined linkage and sequencing approaches to identify causal variants.

Main Results:

  • Linkage analysis is powerful for detecting loci with large effect sizes, often associated with rare variants.
  • Next-generation sequencing facilitates cost-effective sequencing of large genomic regions identified by linkage.
  • Combining linkage and NGS enables the identification of rare causal variants that were previously challenging to pinpoint.

Conclusions:

  • Linkage analysis remains a valuable tool, especially when combined with modern sequencing technologies.
  • The integration of linkage and NGS provides a powerful strategy for discovering rare, high-impact genetic variants.
  • This approach enhances the understanding of genetic contributions to complex traits and diseases.