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This repository has been archived by the owner on Jan 25, 2023. It is now read-only.
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" ...
The text was updated successfully, but these errors were encountered:
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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
This future query type would consist - in this specific instance - of
Besides this typical cancer example (e.g. requested by VICC), Boolean variant queries are also a typical requirement for e.g Matchmaker scenarios.
Options
The text was updated successfully, but these errors were encountered: