Rough draft.This research track is under review with Dr. Atit's lab. Content and sequence may still change.
Here's an example of what's due today
Finding a Risk Gene Among Millions of Bases
Experimental Design domain · Lesson 6 of 20 · Biomedical Innovations (BI)
Today's goal: Students will explain how GWAS scans the whole genome and how the transmission disequilibrium test (TDT) uses parents as built-in controls to flag a real risk allele.
Learn first
What a finished product looks like
This is a model of the work you should turn in. Use it to check your own: match the structure and the level of detail, do not copy it. Your wording should be your own.
Trio transmission tally
Completes: A worked over-transmission tally with an honest caution about needing replication.
Simplified trio tally for one SNP (instructor practice numbers):
- Among 100 heterozygous parents (one risk version, one ordinary version), the risk version was transmitted to the affected child 68 times and not transmitted 32 times.
- Expected under pure chance: 50 transmissions out of 100, because a heterozygous parent is a 50/50 coin flip.
- 68 out of 100 is above the chance expectation of 50.
- What it suggests: the risk allele is over-transmitted to affected children, which flags it as associated with clefting.
- One reason to want more evidence: with many SNPs tested, some over-transmission can occur by luck, so the signal should replicate in a second independent set of trios and the significant SNPs may differ by population.
Also due today: Note that the real IRF6 trio p-value of about 9 x 10^-5 came from the Taiwanese trios, not all four populations equally.
Learn first
How this was built, step by step
The finished product above did not appear all at once. Here is the path from the question to the turned-in work, so you can follow the same steps.
- 1Start from today's question: How do scientists find a single risk gene hidden among millions of DNA bases?
- 2Work the Model and the Explore questions to reason it out before writing anything.
- 3Pull the specific evidence the product needs from the reading and any database you used.
- 4Write it up in the required format: Read a simplified trio tally for one SNP (among 100 heterozygous parents, the risk version was transmitted 68 times and not transmitted 32 times): state how many transmissions chance predicts, whether 68 is above or below it, and one sentence on what this suggests plus one reason you would want more evidence.
- 5Check it against the rubric, then submit.
How this is graded (rubric)
For: Read a simplified trio tally for one SNP (among 100 heterozygous parents, the risk version was transmitted 68 times and not transmitted 32 times): state how many transmissions chance predicts, whether 68 is above or below it, and one sentence on what this suggests plus one reason you would want more evidence.
| Criterion | Proficient | Developing | Beginning |
|---|---|---|---|
| Complete | Every required part of the artifact is present and filled in. | Most parts are present, but one is missing or left blank. | Several parts are missing. |
| Accurate | The science and data are correct and match the evidence. | Mostly correct, with a small factual slip. | Key science or data is wrong. |
| Scientific reasoning (CER) | States a claim, backs it with specific evidence, and explains the reasoning. | Has a claim and evidence, but the reasoning is thin or missing. | Gives an answer with no evidence or reasoning. |
| Professional communication | Clear, organized, and labeled the way a clinician or scientist would write it. | Readable but disorganized or missing labels. | Hard to follow. |
| Submitted | Turned in the right way (Schoology for routine work) and confirmed. | Turned in, but in the wrong place or unconfirmed. | Not turned in. |
How the model answer scores against this rubric
- CompleteProficient: Nothing is left blank: the model fills every part of "Read a simplified trio tally for one SNP (among 100 heterozygous parents, the risk version was transmitted 68 times and not transmitted 32 times): state how many transmissions chance predicts, whether 68 is above or below it, and one sentence on what this suggests plus one reason you would want more evidence.".
- AccurateProficient: Every number and claim matches the case evidence.
- Scientific reasoning (CER)Proficient: It names a claim, cites the specific evidence, and explains the reasoning, not just the answer.
- Professional communicationProficient: It is organized and labeled like a real chart note.
- SubmittedProficient: It would be turned in on Schoology and confirmed.
Check yourself
WebXam problem for today's skill
One exam-style question that uses exactly what you practiced today. Try it before you reveal the answer, then read why each choice is right or wrong.
WebXam-style domain: Gene mapping and study designSelf-check skill: Reading over-transmission in a case-parent trio (TDT)
In a transmission disequilibrium test, 100 heterozygous parents pass a suspected risk allele to their affected children 68 times out of 100. Why is using the child's own parents as the comparison a strength of this design?
Tap an answer to see the full explanation. Nothing is recorded or graded.