Related Experiment Video
Updated: May 15, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Detecting rare variants for psychiatric disorders using next generation sequencing: a methods primer.
Andre Altmann1, Carina Quast, Peter Weber
1Department of Neurology & Neurological Sciences, Functional Imaging in Neurodegenerative Disorders Laboratory, Stanford University, Stanford, CA, USA. altmann@stanford.edu
Current Psychiatry Reports
|December 20, 2012
Summary
Massively parallel sequencing (MPS) advances medical genomics by enabling rare variant analysis for complex disorders. This review guides neuropsychiatric research using reduced sequencing strategies for large-scale studies.
Area of Science:
- Genomics and Neuropsychiatric Research
- Medical Genomics
- Bioinformatics and Sequencing Technologies
Background:
- Massively parallel sequencing (MPS) has significantly impacted medical genomics research.
- Analyzing rare variants with MPS offers potential for understanding complex and neuropsychiatric disorders.
- Large-scale genetic studies, requiring hundreds of samples, are crucial but challenging for individual research groups.
Purpose of the Study:
- To review current massively parallel sequencing technologies and reduced experimental designs.
- To introduce the application of MPS in neuropsychiatric research.
- To provide a guide for future studies investigating the genetic basis of neuropsychiatric disorders.
Main Methods:
- Overview of current massively parallel sequencing technologies.
- Discussion of strategies to reduce sequencing efforts, including target enrichment and non-barcoded sample pooling.
- Illustration of methodologies through a case study on panic disorder patients.
Main Results:
- Successful application of reduced sequencing strategies in a panic disorder study.
- Demonstration of the feasibility of MPS for large-scale neuropsychiatric genetic research.
- Identification of effective methods for analyzing rare variants in complex disorders.
Conclusions:
- Massively parallel sequencing, with optimized designs, is becoming feasible for large-scale neuropsychiatric research.
- Reduced sequencing efforts enable comprehensive genetic analyses of complex disorders.
- This review serves as a guide for integrating MPS into neuropsychiatric research.
Related Concept Videos
03:00Next-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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
02:26Comparing 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%...
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%...