neurogenomics / RareDiseasePrioritisation

Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
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Consider adjusting weights of each severity metric #38

Closed bschilder closed 4 months ago

bschilder commented 7 months ago

Currently:

We then encoded these responses into a semi-quantitative scoring system (“never"=0, "rarely"=1,"varies"=2, "often"=3, "always"=4), which were then weighted by multiplying a semi-subjective scoring of the relevance of each metric to the concept of severity on a scale from 1-5, with 5 being the most severe (“intellectual disability”=5, ”death”=5, “impaired mobility”=4, “physical malformations”=4, “blindness”=3, “sensory impairments”=3, “immunodeficiency”=3, “cancer”=3, “reduced fertility”=1, “congenital onset”=5).