OakVar is a platform for genomic variant analyses. By platform, we mean that OakVar is modular. Modules written in Python are the building blocks of OakVar. OakVar achieves its functions by orchestrating such modules.
OakVar has the following core functionality:
- Serve applications
Annotation is adding additional information to a variant. A certain variant may have a clinical consequence such as a genetic disease or a meaning such as being rarely observed in a population. There are many sources of such annotation, and manually finding the annotation from these many sources for many variants can be laborious and daunting.
OakVar automates this annotation work by:
- Loop over variants
- Standardize annotation sources
- Manage installation of annotation sources
- Organize the annotation from different sources by variant
The main OakVar command for annotation is
ov run. For example, the following command will annotate the variants in a VCF file,
input.vcf, with annotation sources ClinVar and COSMIC and generate an annotated VCF file,
annotated.vcf as well as a database file,
ov module install clinvar # if clinvar module is not already installed. ov run input.vcf -a clinvar cosmic -t vcf -n annotated
Once variants are annotated, they can be filtered by their annotation, for example to know if a sample has clinically relevant variants or not. OakVar stores annotated variants as a database, and thus variants annotated with OakVar can be filtered with SQL queries. OakVar provides a standard mechanism to query variants regardless of their annotation sources.
The main OakVar command for querying variants is
ov report. For example, the following command will filter the variants in
annotated.sqlite with the filter set defined in
filter.json and produce a VCF file of filtered variants,
ov report annotated.sqlite -f filter.json -s filtered -t vcf
Query options can be given to
ov run as well. The following command will generate the same
annotated.sqlite with annotated variants, but
annotated.vcf will already have annotated and filtered variants.
ov run input.vcf -a clinvar cosmic -t vcf -n annotated -f filter.json
OakVar comes with a graphical user interface.
ov gui launches a job and store management web app by default, and also works as the entry point for OakVar's web apps.
Most common way of using OakVar is the input-to-output workflow using
ov run and
ov report. However, any Python-based program can access the variants annotated with OakVar since OakVar is a Python library as well. This aspect of OakVar is being actively developed and streamlined. OakVar comes with two built-in web applications - one for job submission and module management and the other for exploring annotation result, as well as one installable web application for exploring the details of a single variant.
Check back this page later for exciting future development in this area.