1. You identify a putative disease variant in an intergenic region of the genome. The nearest gene is 200kb away. How would you investigate the functional impact of the variant? (150 words)
  2. Next generation sequencing (NGS) has revolutionized the study of genomics beyond sequencing of the genome. Give two examples of genomic features that can be studied using NGS technology. What technologies were previously used to study these genomic features? (100 words)
  3. Which fields from Variant Effect Predictor (VEP) would you consider in order to prioritise functional genetic variants? (100 words)
  4. How can loss of function data be used to find safer targets for drug discovery?   (150words)

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