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Draft of functions for quantifying power of families for rare variant discovery#14

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CNuge merged 52 commits intomainfrom
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Jun 12, 2025
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Draft of functions for quantifying power of families for rare variant discovery#14
CNuge merged 52 commits intomainfrom
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@CNuge CNuge commented Apr 25, 2025

Hi @bballew,

I've taken an initial go at refactoring the methods from seqbio-pedigree-ranking into a module for this R package.

Your review is appreciated, as I think I have grasped the meaning of all the params and the parts of the process, but I would like a second opinion on whether the documentation of the functions is a good reflection of everything that is going on. Please correct any mistakes I've made.

In terms of next steps we can:

  • Expand the unit tests to test the smaller functions.
  • Update the readme to explain the different types of analysis that can be conducted.
  • Provide a vignette some more examples.

Also I think a means of encoding the input matrix from a standard format would be a nice to have, but not required right now.

Addresses #12

@CNuge CNuge requested a review from bballew April 25, 2025 16:13
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Thanks @CNuge this is great! I've added a few comments. I'll also add some docs/examples but outside of this PR.

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K is the penetrance value, as estimated by the optimization function. I used K because the paper I was referencing used K; it's also often used to set seeds to I can see the confusion!

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@CNuge CNuge May 7, 2025

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Okay I see, I think I understood it (the optimization is trying K values between c(0,1) and returning the output best K). I was not sure how to best describe this input range. I will rework the param definition.

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would a default argument of c(0,1) make sense here?

CNuge added 6 commits May 22, 2025 13:10
Adding in new unit tests for pedigree scoring, bug fix for multiple-tree acutal `d` and `n` values. Fixes some essential bugs.
Adding error handling for variant encodings
@CNuge CNuge mentioned this pull request May 23, 2025
CNuge added 10 commits May 23, 2025 15:40
Readme expanded to improve user experience
Green checkmark, wooo.

Note I won't add the status badge to the README in anticipation of some day putting this on CRAN. From my experience that and any images in the README need to get stripped out, so its easiest to keep things barebones and not have to maintain multiple styles of the readme on different branches..
@CNuge CNuge merged commit e58edaf into main Jun 12, 2025
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@CNuge CNuge deleted the dev branch August 13, 2025 18:03
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2 participants