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Proposal: Boolean queries

Open mbaudis opened this issue 7 years ago • 0 comments

Beacon queries should be extended for Boolean variant queries, to allow genomic context depending variant discovery. A typical example from cancer would be a query

Find all variants in `biosamples` with a `biocharacteristic` of _ncit:C3174_ and a [involving the STI-571 binding region](http://science.sciencemag.org/content/293/5531/876)

This future query type would consist - in this specific instance - of

  • a (fuzzy) breakpoint/fusion query to detect the BCR-ABL fusion, AND
  • a wildcard range query to detect variants in the region of the STI-571 binding pocket, AND
  • a biosample query to limit the diagnostic scope(to be discussed elsewhere)

Besides this typical cancer example (e.g. requested by VICC), Boolean variant queries are also a typical requirement for e.g Matchmaker scenarios.

Options

  • Boolean variant query
  • Aggregation pipeline, e.g. using query => handover => query against temporal "dataset" ...

mbaudis avatar Nov 26 '18 17:11 mbaudis