Specification

Wildcard Range Matches (proposed)

Instead of querying for a specific genomic variant (e.g. an A instead of a G at position 7577121 on chromosome 17), Beacons could also employ a “range match” concept, in which all or type specific variants mapping to a genomic interval are being identified.

mbaudis, 2018-11-16: more ...

Beacon Flavours

Beacons may be able to increase their functionality through the development of distinct flavours, which can extend the core Beacon concept for specific use cases.

mbaudis, 2018-10-24: more ...

Precise Variants

Precise variants are such with annotated sequences of 0….n length, and bases of [ATCGN] for the referenceBases and alternateBases attributes (N for “not specified”).

mbaudis, 2018-10-17: more ...

Range Queries and Structural Variants

The adoption of

  • variantType
  • startMin, startMax
  • endMin, endMax

into the Beacon v0.4 release enabled the execution of

  • range queries
  • fuzzy position matching
  • arbitrary sequence variants (though limited through supported & documented vocabularies)

mbaudis, 2018-10-17: more ...

Coordinate use for Beacon Queries

The coordinate system that should be used throughout GA4GH standards is 0-based half open.

mbaudis, 2018-10-17: more ...

GA4GH Beacon v1.0

The official Beacon API v1.0.0 has been approved through the GA4GH Product Approval Process.

mbaudis, 2018-10-02: more ...

Release of Beacon v0.4

Beacon v0.4.0 has been released using the OpenAPI specification.

mbaudis, 2018-01-24: more ...

Release of Beacon v0.3

Beacon v0.3.0 Release

mbaudis, 2016-05-31: more ...