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Databases of genomic variation and phenotypes: existing resources and future needs
Human Molecular Genetics
|August 22, 2013
Summary
Massively parallel sequencing (MPS) generates vast genomic data. Accurate variation and genotype-phenotype databases are crucial for interpreting this data to identify medically significant variants for clinical and research applications.
Area of Science:
- Genomics
- Bioinformatics
- Medical Genetics
Background:
- Massively parallel sequencing (MPS) is vital for identifying medically significant genetic variants.
- Accurate variation and genotype-phenotype databases are essential for interpreting large-scale MPS data.
Purpose of the Study:
- To review the current state of variation and genotype-phenotype databases.
- To discuss their utility and potential improvements for clinical genomics.
Main Methods:
- Literature review of existing variation and genotype-phenotype databases.
- Analysis of database features including ease of use, nomenclature, comprehensiveness, and expert input.
Main Results:
- Databases vary significantly in usability, standardization, completeness, and reliance on expert opinion.
- Current databases provide frequency data, literature summaries, and variant effect predictions.
Conclusions:
- A dynamic, comprehensive reference database for medically important variants is needed.
- This database should integrate with exome and genome data and incorporate expert consensus.
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