The Variant Database, developed at the Australian National University, provides a web-based framework for exploring genetic variation across a range of diseases.
This tool facilitates variant analysis enabling researchers to browse and prioritize variants that may be influential in disease pathogenesis.
Some of the key features are:
- Brings together phenotype-genotype associations, cohort-based analysis, and family studies under one user-friendly interface.
- Search and filter variants based on gene, patient ID, frequency, pathogencity, genetic coordinates, consequence, disease status, phenotypes and more
- Genotype-to-phenotype and Phenotype-to-genotype based searching
- Private access to variants are available through SSL encrypted authentication, segregated and shared with defined user groups.
- Reports exportable to Excel format
- VCF, BAM downloads
- Exon coverage reports
- Search profiles
- Smart gene search
- Health reports
- IGV genome browser
- Can scale to billions of variants
