Skip to content

Default values in ped filter #39

Description

@rkwalters

The current default weights in filter_ped.py likely undervalue pedigree parents. The defaults were set fairly arbitrarily so are probably a good target for refinement anyway, but now have a clear case of where the current values may be suboptimal.

Example: Imagine cryptic relatedness between IIDs A1 and B3/B4 in the following pedigree:

FID IID Mat Pat Pheno
A A1 0 0 1
A A2 0 0 1
A A3 A1 A2 2
B B3 B1 B2 -9
B B4 B1 B2 -9

Default weights then give:

A1: 2 (con) + 5 (fam-case) - 20 (2 cross-fid) = -13
A2: 2 (con) + 5 (fam-case) = 7
A3: 5 (case) + 4 (2 fam-con) = 9
B3: 1 (miss) + 1 (fam-miss) - 10 (1 cross-fid) = -8
B4: 1 (miss) + 1 (fam-miss) - 10 (1 cross-fid) = -8

which would result in suggesting A1 be removed. Clearly though A1 is much more informative (as a control, and as part of a trio) than B3 and B4.

Solution
Likely avenues to consider for addressing this:

  • adjust value of individuals with missing phenotypes
  • add weight for being a parent (possibly varying with child phenotype)
  • let weight for cross-fid relationship vary with other IIDs phenotype

Metadata

Metadata

Assignees

No one assigned

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions