Guide-linked quiz · Medium Level

AI in Genomics Quiz

Review variant-effect prediction, AlphaMissense, polygenic scores and why computational results need clinical interpretation.

Related guide pathsAI In Genomics
Question 1 of 8

Roughly how many base pairs are in one haploid human reference genome?

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  1. Roughly how many base pairs are in one haploid human reference genome?
    • About 3 billion
    • About 3 thousand
    • About 3 million
    • About 3 trillion
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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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