The perspective paper describes the advancements in Next Generation Sequencing technologies for studying Human genetic variation at different levels of resolution.

Genomics assessment: Due for submission on 28/11/24 (4pm)

You have been given a perspective paper, entitled “A 25-year odyssey of genomic technology advances and structural variant discovery”. The questions below relate to this paper, or to questions around genomics. For your answers to the below, refer to the contents of the paper, and your module (i.e. seminars) but you should also refer to wider resources: especially other papers (ideally from the last ten years). Focus if you can on using evidence from primary literature, but other well-trusted resources (such as government websites) may be useful. Avoid less well peer-reviewed sources (such as Youtube, Wikipedia) wherever possible. Use referencing (using standard citation methods) as a single reference list at the end of the document (NOT counted in word count).

Submit your assessment as a single word document, to the Turnitin area on Blackboard.

Questions:

1. The perspective paper describes the advancements in Next Generation Sequencing technologies for studying Human genetic variation at different levels of resolution. Describe and compare, in your own words, these different technologies and their pros- and cons- for studying Structural Variation, providing examples of studies where they have been successfully deployed. You can use a table to summarise if you wish, but tables should be reinforced with standard ‘prose’ text (i.e. do not JUST present a table) (Approx. 500 words; 20 marks)
2. In your own words, summarise Figure 4, describing the importance of different types of genetic and structural variation (SV) in the human genome and the impacts these can have on human health and disease (5 marks). Include in your answer a brief discussion of the distinguishing mechanistic feature for occurrence of SVs compared to classical genetic mutations (5 marks) Refer to material in textbooks, other papers and/or seminars to improve your answer. (Total approx. 300 words; Total: 10 marks).
3. Describe what a Telomere-to-Telomere (T2T) Assembly is and the benefits of a T2T assembly to understanding human or other eukaryotic genomes vs. previous draft assemblies. Use the paper here, the first Human T2T paper, Reference 62, and include analysis from other references from your own wider research (Approx. 400 words; 15 marks).
4. Critically evaluate the projects described in the “FUTURE DIRECTIONS” section that are using the advances in long-read sequencing technologies to inform investigations of human genomes at the population scale. Refer to how they are (or plan to) make a difference on (population-level) human health (see page 1033 of the perspective paper, but use wider examples from your own searches). (Approx. 400 words; 15 marks)
5. Write a Reflection piece on the Genomics module bringing in the wider lecture / seminar content as well as the impact of the shared paper on your thinking. (Approx. 800 words; 40 marks) Some useful questions to ask yourself in this reflection piece are:

• What have I learned?
• How has learning about genomics affected me? 
• Are there unsolved questions or critical issues that interest me?
• How will what I’ve learned affect my future thinking? 

Use a form of structure for your reflective writing, for example refer to Gibb`s Reflective Cycle, including a description of your experience of the module, Feelings of this experience, Evaluation of the module (good and bad), Analysis you have made to make sense and evaluate the impact on you and your future, what conclusions you have drawn and your future plans to incorporate genomics in your career (or not).

Total 100 marks.