Closed juhtornr closed 6 years ago
Changes applied in new branch v0.4. They include upgrading the Spring Boot version and implementing support for v0.4.
Some issues detected in the VCF parser provided with the reference implementation:
AC
should be used for the variantCount
field in DatasetAlleleResponse
.AN
should be used for the callCount
field in DatasetAlleleResponse
.AF
should be used for the frequency
field in DatasetAlleleResponse
.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
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).