Ben Hutton
Ben Hutton
Decipher stores two data points for this. Pathaginicty (class 1-5 with 4 including 4a and 4b), and Contribution (full, partial, uncertian, none). I'm not sure how this would fit in...
@buske Decipher can do pathogenicity 1-5. As for evidence for candidate gene, Decipher has morbid ids for genes, plus the DDD created DDG2P genes list (which contains Yes or Possible)....
There has been a lot of discussion around this in the community! I think it best to remove it from milestone 1.1. Much more discussion is needed! For example how...
We have similar within DECIPHER. Regarding "chatter", specifically I mean the recent paper on new ACMG standards for interpretation of sequence variants. https://www.acmg.net/docs/standards_guidelines_for_the_interpretation_of_sequence_variants.pdf
With reference to https://github.com/ga4gh/mme-apis/issues/86#issuecomment-77477745, we should also add totalResults. We will need to work out what level these elements should be at.
This would be a breaking change. Removing from 1.1 milestone. DECIPHER currently limits the number of results, following how Phenome Central works. Given that, we could close this issue in...
A lot of feedback we have gotten from people using the MME, including internally within MME from users in the policy group, is too many results are bad and unuseful....
We arrived at the need to set an arbitrary cut off because there were some cases where hundreds or even over a thousand results were returned. No system was setup...
In the early days before we implemented a limit, we returned a huge chunk of our database based on some queries. This is not desierable and so a limit was...