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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated
Elizabeth A Webb1, Timothy D Smith, Richard G H Cotton
1Genomic Disorders Research Centre, Melbourne, Vic 3053, Australia. lizwebb@connexus.net.au
Human Genomics
|April 21, 2011
Summary
Finding DNA mutation data is challenging due to varied online databases. Locus-specific databases (LSDBs) offer better accessibility for genetic variation information compared to genome-wide resources.
Area of Science:
- Genetics
- Bioinformatics
- Computational Biology
Background:
- Online DNA mutation databases vary in terminology and content completeness.
- This heterogeneity complicates locating specific mutations and associated phenotypic effects.
Purpose of the Study:
- To evaluate the accessibility and searchability of web-based genetic variation resources.
- To identify deficiencies in current databases for retrieving mutation data.
Main Methods:
- Assessed 15 genetic databases (3 locus-specific, 12 genome-wide) and search engines (Google, PubMed).
- Investigated search efficiency using simple terms for five model mutations, measuring time, clicks, and data availability (phenotype).
Main Results:
- Locus-specific databases (LSDBs) generally provided positive outcomes.
- Most genome-wide databases were not searchable, with limited success in finding mutations and phenotype data.
- Google and PubMed offered partial success in mutation retrieval and patchy phenotype information.
Conclusions:
- Many current web-based resources lack efficient access to comprehensive mutation data.
- Locus-specific databases offer optimal outcomes for accessing genetic variation information.
- Centralizing mutation data in a common repository with a unified search process is recommended.
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