EvidenceBeacon Notes - GA4GHconnect 2019
The topic of “EvidenceBeacon” was discussed with many different attendants during the speed datingg session and beyond, leading to some clearer picture about the (widening) extent & next steps.
- Christina Y. Gonzalez (EVA)
- EVA needs to identify if a given sequence variant has an rsid
- this is in the realm of EB, since
- it requires an “annotation response”
- the same rsid may be (rarely) identified through different sequence variant queries
- Melissa Cline & Gunnar Rätsch (BRCAX, ENIGMA)
- Melissa brought up the possibility to use results from genomic perturbation tests and model organisms as providing experimental evidence => how could this be addressed?
- Chris Evelo (RD)
- name based variant queries
- but agreement that this is well served by a service/interface layer in standard Beacon implementations, if supporting range queries