neurogenomics / RareDiseasePrioritisation

Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.

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Explain methods diagrammatically

bschilder opened this issue · comments

Our analyses and the number of steps have grown, so would be good to explain this in a more understandable way (for ourselves and for readers).

I will:

  1. write an outline describing all the methods in our rare diseases paper, including the new methods ive been developing lately for identifying celltype-driven differential outcomes, and disease-celltype enrichment analyses, and making connections between disease-phenotypes-celltype-genes
  2. visualize this as a diagram, which may serve as a supplementary figure in the manuscript

Here's a more abstract attempt to explain the approach:
multiscale

@NathanSkene you can find the step-by-step approach I took explained here, specifically the Link cell types to symptoms section:
#24 (comment)

I will also provide a specific example from our results.

I think i've managed to do this effectively in my ISMB presentation. As @NathanSkene and I have discussed, I will use elements of how I communicated my work in this presentation to update the Rare Diseases manuscript:

ISMB2023_talk.pptx