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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-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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

Evaluating rare variants in complex disorders using next-generation sequencing.

Matthew Ezewudo1, Michael E Zwick

  • 1Department of Human Genetics, Emory University, Whitehead Biomedical Research Building, Suite 301, Atlanta, GA 30322, USA. mezewud@emory.edu

Current Psychiatry Reports
|February 26, 2013
PubMed
Summary
This summary is machine-generated.

Investigating the genetic basis of autism spectrum disorders and schizophrenia reveals common variants are unlikely causes. Rare genetic variations and structural changes are key to understanding these complex neuropsychiatric disorders.

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Area of Science:

  • Neuroscience
  • Genetics
  • Bioinformatics

Background:

  • Complex neuropsychiatric disorders, including autism spectrum disorders (ASD) and schizophrenia, present significant challenges in understanding their genetic underpinnings.
  • Initial genetic studies focused on common variants with large effect sizes, but this hypothesis has been largely refuted.
  • The complexity of these disorders necessitates exploring alternative genetic factors.

Purpose of the Study:

  • To review the evolution of genetic research strategies for complex neuropsychiatric disorders.
  • To highlight the role of structural variations and rare genetic variants in disease etiology.
  • To discuss the impact of next-generation sequencing technologies on identifying these genetic factors.

Main Methods:

  • Review of genetic study methodologies, from early hypothesis testing to advanced sequencing techniques.
  • Analysis of the impact of structural variation discovery on understanding disease origins.
  • Exploration of the application of oligonucleotide sequencing and targeted enrichment for rare variant detection.

Main Results:

  • Common variants with large effects do not fully explain the prevalence of autism spectrum disorders and schizophrenia.
  • Structural variations have become increasingly important in understanding the etiology of these conditions.
  • Advances in sequencing technologies are crucial for identifying rare genetic variations.

Conclusions:

  • The genetic architecture of complex neuropsychiatric disorders is intricate, involving rare variants and structural changes.
  • Next-generation sequencing offers powerful tools for dissecting this complex genetic landscape.
  • Future research and clinical applications will benefit from continued advancements in sequencing technologies.