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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Searching for genetic determinants in the new millennium
1Department of Genetics, Stanford University School of Medicine, California 94305-5120, USA.
Nature
|June 24, 2000
Summary
Human genetics faces challenges in identifying genes for common diseases. Post-genome strategies using large-scale, genome-wide studies offer new opportunities for understanding complex genetic disorders.
Area of Science:
- Human genetics
- Genomic medicine
- Complex disease genetics
Background:
- Current molecular methods excel at identifying genes for rare Mendelian syndromes.
- These methods are insufficient for discovering genes underlying common, familial, non-Mendelian diseases.
- The completion of the human genome sequence presents new avenues for genetic research.
Purpose of the Study:
- To review the challenges in human genetics research.
- To discuss strategies for post-genome research on complex genetic disorders.
- To provide suggestions for optimal approaches in the post-genome era.
Main Methods:
- Review of current literature and methodologies in human genetics.
- Discussion of large-scale genome-wide studies.
- Analysis of strategies for complex genetic trait research.
Main Results:
- Traditional methods are inadequate for complex non-Mendelian diseases.
- Genome-wide studies are crucial for future genetic discoveries.
- Debate exists regarding the most effective post-genome research strategies.
Conclusions:
- New approaches are needed to unravel the genetic basis of common diseases.
- Large-scale genome-wide studies are essential for advancing human genetics.
- Strategic planning is required for optimal utilization of genomic data.
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