Is your feature request related to a problem? Please describe.
Impelemtn this criteria
Describe the solution you'd like
[ ] Investigate the criteria itself and implementation of their automatation in Intervar
[ ] Make a plan (or even separate issues if needed) (see below)
Describe alternatives you've considered
N/A
Additional context
PS4
PS4 (prevalence)
No automation has been implemented.
Original Definition
The prevalence of the variant in affected individuals is significantly increased compared to the prevalence in controls
Note 1: Relative risk (RR) or odds ratio (OR), as obtained from case-control studies, is >5.0 and the confidence interval around the estimate of RR or OR does not include 1.0. See manuscript for detailed guidance.
Note 2: In instances of very rare variants where case-control studies may not reach statistical significance, the prior observation of the variant in multiple unrelated patients with the same phenotype, and its absence in controls, may be used as moderate level of evidence.
-- Richards et al. (2015); Table 4
Is your feature request related to a problem? Please describe. Impelemtn this criteria
Describe the solution you'd like
Describe alternatives you've considered N/A
Additional context
PS4
PS4 (prevalence)
No automation has been implemented.
Original Definition