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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genome variation: a review of Web resources
Andrew Collins1, William J Tapper
1Human Genetics Research Division, University of Southampton, Southampton, UK.
Methods in Molecular Biology (Clifton, N.J.)
|December 15, 2010
Summary
High-quality web resources aid genome variation research. This review covers databases and tools for genetic variation, phenotype, and disease analysis, providing a foundation for future genomic data.
Area of Science:
- Genomics and Bioinformatics
- Human Genetics
Background:
- Numerous high-quality web-based resources are available for genome variation research.
- Identifying the most appropriate resources can be challenging.
- The depth and complexity of sequence and polymorphism databases are rapidly increasing.
Purpose of the Study:
- To review existing web-based resources for genome variation research.
- To provide an overview of databases and software tools for analyzing genetic variation and common diseases.
- To offer a foundation for accommodating future genomic data.
Main Methods:
- Literature review of web-based resources.
- Categorization of resources by data type (sequence, genotype, phenotype, copy number variation, genetic maps, cytogenetic data).
- Overview of key software tools for genetic analysis.
Main Results:
- A wide array of web resources facilitate genome variation research.
- Key sites link to specialized resources.
- Databases and tools cover sequence, genotype, phenotype, copy number variation, genetic maps, and cytogenetic data.
- Software tools are available for analyzing the genetic basis of common diseases.
Conclusions:
- Existing databases and tools provide a solid foundation for current and future genomic data analysis.
- The reviewed resources are crucial for advancing research into the genetic basis of common diseases.
- Web-based resources are essential for navigating the complexities of genome variation research.
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