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
Custom Exomiser reports
Mon, 10 Feb 2020 03:38:00 +0000
Users can now run Exomiser using parameters of their choosing. For example, users can set the allele frequency , variant type, inheritance mode, and model organisms. To use Exomiser, from the menu Reports -> Exomiser. Results will be emailed to you when completed....
gnomAD annotated search: De novo & Mendelian inheritance filters
Tue, 04 Feb 2020 21:47:00 +0000
Similar to the pipeline annotated search, the gnomAD annotated search now supports de novo and mendelian inheritance filters....
v2.0 and v2.1 dropped from CPI28 release
Thu, 30 Jan 2020 01:46:00 +0000
As of Jan 29, 2020 (cpi28 relaese), datasets generated from pipeline version v2.0 and v2.1 have been dropped from the database in favor of the newer pipeline versions v2.3 and v2.38. Those that would still like to access the older pipeline versions can do on a request basis. Or can request to their data reanalyzed using newer versions of the pipeline....
Truncated alignment (BAM) files for offline viewing
Thu, 30 Jan 2020 01:13:00 +0000
We've introduced a more efficient way of downloading the alignment files without having to download the entire BAM by focusing on the variant of interest. We've added a packaged download of all the needed files (VCF, BAM, indexes) for offline viewing. The original BAM is truncated to include 1000 bps before the start coordinate and 1000 bps after the end coordinate of the variant. These files can be found i...
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gnomAD annotated search
Wed, 13 Nov 2019 21:50:00 +0000
We've introduced an exciting new way to browse and filter variants using annotations provided by gnomAD for exomes. The existing search, which is based on the pipeline provided annotations, is unchanged and can still be used in the usual way. This format of the search looks at the same data, but viewed in a different way. There are several differences between 2 search mechanisms. The primary difference is t...