ga4gh-beacon / beacon-elixir

Elixir Beacon Reference Implementation. Latest release is compliant with v1.1.0 of the specification.
https://beacon-project.io/
Other
14 stars 7 forks source link

Implement support for 0.4 specification #4

Closed juhtornr closed 6 years ago

sdelatorrep commented 6 years ago

Update the Elixir reference implementation so 0.4 version of the spec is supported. This includes support for structural variants, range queries and Consent Codes (we are not including ADA-M in this first release).

sdelatorrep commented 6 years ago

Changes applied in new branch v0.4. They include upgrading the Spring Boot version and implementing support for v0.4.

sdelatorrep commented 6 years ago

Some issues detected in the VCF parser provided with the reference implementation:

From the VCF specification:

AN : total number of alleles in called genotypes AC : allele count in genotypes, for each ALT allele, in the same order as listed AF : allele frequency for each ALT allele in the same order as listed: use this when estimated from primary data, not called genotypes