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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.
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...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Related Experiment Video

Updated: May 10, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

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

Published on: June 15, 2011

Sequencing studies in human genetics: design and interpretation.

David B Goldstein1, Andrew Allen, Jonathan Keebler

  • 1Center for Human Genome Variation, Duke University School of Medicine, 308 Research Drive, Box 91009, LSRC B Wing, Room 330, Durham, North Carolina 27708, USA. d.goldstein@duke.edu

Nature Reviews. Genetics
|June 12, 2013
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing aids human genetics discovery but raises concerns about data interpretation. This overview guides accurate genetic variant association studies for reliable disease insights.

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

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Human genetics
  • Genomic medicine
  • Bioinformatics

Background:

  • Next-generation sequencing (NGS) is a pivotal tool in human genetics research.
  • NGS has successfully identified genes for Mendelian diseases.
  • NGS is increasingly used for diagnosing childhood genetic disorders and complex diseases.

Purpose of the Study:

  • To provide an overview of the next-generation sequencing workflow.
  • To highlight measures for accurate inference from human sequencing data.
  • To address concerns regarding the interpretation of large-scale sequence data.

Main Methods:

  • Overview of the standard next-generation sequencing workflow.
  • Emphasis on quality control and analytical considerations.
  • Discussion of statistical approaches for variant association.

Main Results:

  • Next-generation sequencing offers powerful capabilities for genetic discovery.
  • Potential for misinterpretation of genetic variants exists with large datasets.
  • Careful methodology is crucial for valid association claims.

Conclusions:

  • Accurate interpretation of next-generation sequencing data is essential.
  • Standardized workflows and rigorous analysis mitigate risks of unfounded claims.
  • This work facilitates reliable genetic discoveries in human health and disease.