Guide-linked quiz · Medium Level
AI in Genomics Quiz
Review variant-effect prediction, AlphaMissense, polygenic scores and why computational results need clinical interpretation.
Question 1 of 8
Roughly how many base pairs are in one haploid human reference genome?
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- Roughly how many base pairs are in one haploid human reference genome?
- About 3 billion
- About 3 thousand
- About 3 million
- About 3 trillion
- What does DeepMind's AlphaMissense predict?
- The price of gene therapies
- Whether missense mutations are likely benign or pathogenic
- A patient's blood type
- The shape of red blood cells
- Why is DNA often treated like a 'language' by AI models?
- Because it is written in English
- Because genes can talk
- Because it is a long sequence of letters (A, C, G, T) with learnable patterns
- Because it uses punctuation marks
- What is a polygenic risk score?
- A test for a single broken gene
- A measure of how many genes you have
- A score for DNA sequencing speed
- An estimate of disease risk combining many small genetic effects
- In AlphaMissense, how does evolutionary conservation function in the model?
- It is one signal combined with structural context to help predict missense effects
- It proves every change at a conserved position is harmful
- It alone determines a clinical diagnosis
- It measures a patient’s disease severity
- What is the goal of AI designing CRISPR guide RNAs?
- To make DNA glow
- To maximize on-target edits and minimize off-target effects
- To slow down cell division
- To translate DNA into protein
- What information did AlphaMissense use in adapting an AlphaFold-based model for missense-effect prediction?
- Only a patient’s symptoms
- Only CT images
- Human and primate variant population-frequency data
- A list of medical billing codes
- How should a predicted pathogenicity score be used in clinical variant interpretation?
- As a stand-alone diagnosis
- As proof that a person will develop disease
- As a replacement for genetic counseling
- As one computational evidence source alongside clinical and functional evidence
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