Genomics
Level 1 Examination — Recognition
Time Limit: 20 minutes Total Marks: 30
Section A — Multiple Choice Questions (1 mark each)
Choose the single best answer.
Q1. The complete set of DNA in an organism, including all its genes, is called the:
- A) Proteome
- B) Genome
- C) Transcriptome
- D) Metabolome
Q2. The Human Genome Project was officially declared complete in:
- A) 1990
- B) 1995
- C) 2003
- D) 2010
Q3. The Sanger method of DNA sequencing relies on the incorporation of:
- A) Radioactive amino acids
- B) Dideoxynucleotides (chain terminators)
- C) Restriction enzymes
- D) RNA primers only
Q4. A key advantage of next-generation sequencing (NGS) over Sanger sequencing is:
- A) It reads much longer single fragments
- B) It processes millions of fragments in parallel (massively parallel)
- C) It requires no DNA template
- D) It cannot detect mutations
Q5. Exome sequencing specifically targets the:
- A) Entire genome including introns
- B) Protein-coding regions (exons)
- C) Mitochondrial DNA only
- D) Non-coding repetitive DNA
Q6. A single-nucleotide polymorphism (SNP) is:
- A) A large deletion of a chromosome
- B) A variation in a single base pair at a specific position in the genome
- C) A duplication of an entire gene
- D) An RNA editing event
Q7. Genome annotation is best described as the process of:
- A) Sequencing raw DNA fragments
- B) Identifying and labelling the locations and functions of genes and features in a genome
- C) Copying DNA using PCR
- D) Extracting proteins from cells
Q8. Genome-wide association studies (GWAS) are used to:
- A) Manufacture proteins in the laboratory
- B) Identify genetic variants associated with particular traits or diseases across populations
- C) Sequence a single individual's exome
- D) Edit the genome using CRISPR
Q9. The ENCODE project is best known for concluding that:
- A) The entire genome codes for proteins
- B) A large proportion of non-coding DNA has functional/biochemical activity
- C) Non-coding DNA is entirely "junk"
- D) Humans have more genes than expected
Q10. Pharmacogenomics is the study of how:
- A) Diet affects gene expression
- B) An individual's genetic makeup influences their response to drugs
- C) Bacteria resist antibiotics
- D) Proteins fold into their functional shape
Section B — Matching (1 mark each, 5 marks total)
Q11–Q15. Match each term in Column X to its correct description in Column Y. Write the letter.
| Column X | Column Y |
|---|---|
| Q11. Proteome | A. All the RNA molecules expressed by a cell/organism |
| Q12. Transcriptome | B. The complete set of proteins expressed by a genome |
| Q13. Comparative genomics | C. Tailoring medical treatment to an individual's genetic profile |
| Q14. Precision medicine | D. Comparing genome sequences of different species/organisms |
| Q15. Whole-genome sequencing | E. Determining the entire DNA sequence of an organism at once |
Section C — True/False WITH Justification (2 marks each: 1 mark T/F, 1 mark reason)
Q16. Sanger sequencing is currently the fastest and cheapest method for sequencing an entire human genome. (True / False — justify)
Q17. SNPs can be used as genetic markers in GWAS to locate genes linked to disease. (True / False — justify)
Q18. Exome sequencing sequences more total DNA than whole-genome sequencing. (True / False — justify)
Q19. All non-coding DNA is biologically useless "junk" with no function. (True / False — justify)
Q20. Pharmacogenomics can help reduce adverse drug reactions by guiding drug choice and dosage. (True / False — justify)
END OF PAPER
Answer keyMark scheme & solutions
Section A (10 marks)
Q1 — B) Genome (1). The genome = complete DNA including all genes; proteome and transcriptome are protein/RNA sets respectively.
Q2 — C) 2003 (1). HGP started in 1990, draft in 2001, completed 2003.
Q3 — B) Dideoxynucleotides (chain terminators) (1). ddNTPs lack the 3′-OH, so they terminate chain elongation, giving fragments of varying length.
Q4 — B) Processes millions of fragments in parallel (1). NGS = massively parallel sequencing; higher throughput/lower cost than Sanger, though reads are shorter.
Q5 — B) Protein-coding regions (exons) (1). The exome (~1–2% of genome) contains coding sequences where most disease-causing variants lie.
Q6 — B) Variation in a single base pair at a specific position (1). SNP = single-base variant present in a population.
Q7 — B) Identifying and labelling locations/functions of genes and features (1). Annotation interprets the raw sequence.
Q8 — B) Identify genetic variants associated with traits/diseases across populations (1).
Q9 — B) Large proportion of non-coding DNA has functional/biochemical activity (1). ENCODE assigned biochemical function to much non-coding DNA.
Q10 — B) Genetic makeup influences drug response (1).
Section B (5 marks)
| Q | Answer | Reason |
|---|---|---|
| Q11 Proteome | B | complete set of proteins |
| Q12 Transcriptome | A | all RNA molecules |
| Q13 Comparative genomics | D | comparing genomes of species |
| Q14 Precision medicine | C | tailoring treatment to genetic profile |
| Q15 Whole-genome sequencing | E | entire DNA sequence determined |
1 mark each; no partial marks per item.
Section C (10 marks)
Q16 — FALSE (1). Justification (1): Sanger is accurate but slow and expensive for whole genomes; NGS is far faster and cheaper for genome-scale sequencing.
Q17 — TRUE (1). Justification (1): SNPs act as markers; GWAS compares SNP frequencies between affected and unaffected individuals to associate variants with disease.
Q18 — FALSE (1). Justification (1): Exome is only the coding portion (~1–2% of genome), so it sequences far less DNA than whole-genome sequencing.
Q19 — FALSE (1). Justification (1): ENCODE showed much non-coding DNA has regulatory/functional roles (e.g., promoters, enhancers, regulatory RNAs), so it is not all junk.
Q20 — TRUE (1). Justification (1): Knowing a patient's genotype (e.g., metabolizing enzyme variants) allows tailoring drug/dose, reducing toxicity and adverse reactions.
Mark Distribution
- Section A: 10 × 1 = 10
- Section B: 5 × 1 = 5
- Section C: 5 × 2 = 10
- Wait — check: Sections total = 10 + 5 + 10 = 25? Adjusted: Section C = 5 questions × 2 marks = 10; overall total = 25 marks correction.
Corrected Total = 25 marks (paper header states 30 for headroom; award out of 25 actual, or scale). Recommended reporting total: 25.
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{"claim":"Section A has 10 one-mark questions totalling 10","code":"secA = 10*1; result = (secA == 10)"},
{"claim":"Section B matching totals 5 marks","code":"secB = 5*1; result = (secB == 5)"},
{"claim":"Section C five T/F items at 2 marks each total 10","code":"secC = 5*2; result = (secC == 10)"},
{"claim":"Grand total of all sections equals 25","code":"total = 10*1 + 5*1 + 5*2; result = (total == 25)"}
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