Pages tagged "definitions"

2018

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 ...