Where Does Elsie's Hair Color Come From? A "De-Simplified" Pedigree Lesson
Why this work is in the frame
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Bibliographic record
Abstract
Pedigree analysis is part of most Genetics curricula, but the examples traditionally used in genetics courses present phenotypes as if they were entirely and inexorably defined by genotype. This does not reflect the current state of understanding in genetics, and can inadvertently reinforce the inaccurate belief that characteristics associated with any socially-defined group is governed by genes. In order for Genetics resources to better reflect present-day knowledge, instructors need teaching resources that acknowledge the multifactorial nature of phenotypic variation. Such resources are still scarce, particularly for pedigrees. This pedigree lesson, set up as a case study, allows students to “discover” the complexities of genotype-phenotype relationships using data from a published study. Students first become familiar with the specific single nucleotide polymorphism (SNP) in a single gene associated with the phenotype of interest (hair color), then contend with a series of increasingly challenging pedigrees, the last one seeming unsolvable. They then examine a figure from the research paper, showing the broad and overlapping ranges in hair color in each of the three relevant genotypic groups. This becomes the starting point for explaining the apparent inconsistencies in the most challenging pedigree, and for discussing the real-life complexities behind phenotypes and pedigree analysis. The lesson was well received by students, and their post-lesson assignments demonstrated a nuanced understanding of phenotype. Answers to exam assessment questions showed excellent pedigree analysis skills and a keen eye for the influence of environment on phenotypes. <em>Primary Image:</em> An artist's rendition of phenotypic variation vs. pedigree simplicity. A pedigree chart is superimposed onto an image of the head, face and neck of a person with colorful hair. The colorful hair is reduced to black or white in areas where the pedigree is superimposed. Artwork by <a href="http://jacelyndesigns.com">Jacelyn Shu</a>, used with the artist’s permission.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it