Ben Hutton
Ben Hutton
Currently we're working out a way to do vairant scoring based on functional overlap (gene and consequence). We'll be running our ideas / current status through the higher-ups this week,...
I don't think you can do a score per feature, as the score is calculated based on the whole "bag" of phenotype terms.
How to combine scores to a single score is a question I'm running past our project owner today. I'll let you know what he decides / comments.
IT has been suggested by Dr Hurles that we should use the Fisher's Combined Probability Test... aka the Fisher's method, for combining the two scores. I'm sure there are a...
I was expecting it to be part of the 1.1 release, but that we should be aware that it's something that would really add value, and should be done soon!...
Regarding your earlier comment https://github.com/MatchMakerExchange/mme-apis/issues/85#issuecomment-77063680 There's also the situation of comparing multiple vairants. My thought was that surely you take the MAX score for each comparison to arrive at the...
Technical call 4th August Discussed posibility of cross cutting scores (scoring at each level where socring is required). Also discussed using JsonPath to allow detailed scoring.
Vote for option 2. Seems most flexible and powerful, while not breaking anything that's currently there.
Possibly should have a way to identify which scoring algorithm the score is attained from.
A note on option 2. The library support looks good in most languages. Perl support is good, but there is an outstanding issue in the only libray that implements it,...