Quick Start
VA-Spec development consists of two parts, with two interconnected GitHub repos
https://github.com/ga4gh/va-spec is used primarily for schema development. There, you can learn about the contents of the existing VA-Spec profiles, covering topics such as cohort allele frequency evidence, and variant pathogenicity and oncogenicity statements.
https://github.com/ga4gh/va-spec-python is used for the development of the reference implementation, in python. There, you will find software for validating VA-Spec models, as well as ipython notebooks which illustrate some basic models along with data.
For most new users, the best way to get started with VA-Spec is to start by reading over the VA Core Model, and then review some of the existing models under VA Profiles. For example, Therapeutic Response, under the AAC 2017 Aligned Profiles, is a concise, approachable model, which makes a good starting point. After that, users may wish to visit the va-spec-python notebooks, which illustrate some of the VA-Spec models with actual data.
Next, many users may want to start prototyping their own software with some sample data, to explore the construction of VA-Spec profiles. There are a number of example datasets available in both YAML and JSON at https://github.com/ga4gh/va-spec/tree/v1/examples.
Finally, VA-Spec is an open-source initiative, driven by community involvement, and we welcome participation from individuals at all levels of skill and experience! To learn about ways to join working group meetings, participate in monthly virutal hackathons, or simply follow the latest news on VA-Spec and related products, visit See Getting Involved for more details.