Coursework Assessment Human Variation 2021-22

Coursework Assessment LIFE3009 Human Variation 2021-22

The overall task is to write a 2,000-word review of the topic illustrated by examples from recent studies. For each topic, I have provided “starter” papers to illustrate the theme and earlier work; each topic will be based on one or more of the lecture presentations which provide general background for these more specific and detailed explorations.

The assignment is to explore and explain more recent original research work relevant to the question, concentrating on the last 3-5 years. Most credit will be given for explanations of relevant material in your own words that show understanding of the findings and their significance. In every topic there are numerous possible sources of new research to discuss, and it is accepted that in a relatively short account it is not possible to review all these sources in detail. Nevertheless, the best reviews will both demonstrate awareness of a range of relevant work at the same time as demonstrating detailed understanding of individual studies.

Submissions must be each student’s own individual, original and independent work. Turnitin will be used to screen for evidence of the inappropriate use of other sources, including cooperation between students.

Criteria: what will score well

• Appropriate inclusion of recent original studies in addition to those provided

• Discussion that evaluates methods and evidence

• Demonstration of clear understanding of the underlying principles

• Accurate use of terminology and technical description

There is also a lot of useful advice implicit in the ‘Convenor feedback on coursework submissions (2020-21)’ File on moodle, in which I summarise my impressions of submitted work from last year (2020-21). If you have a question please first check the advice given in the “Coursework FAQs” document in the Assessment section on moodle.

Choose one of the following three topics:

How have studies of whole-genome sequences from modern humans, including short- or long-read technologies, led to a detailed understanding of structural variation in the human genome? (most relevant lectures: 13 and 14)

Starter references

Huddleston, J., et al. (2017). Discovery and genotyping of structural variation from long-read haploid genome sequence data. Genome Res. 27, 677-685. doi:10.1101/gr.214007.116.

Hehir-Kwa, J., et al. (2016). A high-quality human reference panel reveals the

complexity and distribution of genomic structural variants. Nat Commun 7, 12989. https://doi.org/10.1038/ncomms12989

How have genetic association studies been useful in understanding the genetic basis of skin pigmentation within and between populations? (most relevant lectures: 5, 7 and 8).

Starter references

Crawford, N.G., et al. (2017). Loci associated with skin pigmentation identified in African populations. Science, 358(6365):eaan8433. doi: 10.1126/science.aan8433. Sulem, P., Gudbjartsson, D., Stacey, S. et al. Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40, 835–837 (2008). https://doi.org/10.1038/ng.160

What studies have used analysis of genetic association to understand inherited factors affecting normal variation in the biochemistry and cellular composition of human blood? (most relevant lectures: 7 and 8).

Starter references

Hodonsky CJ, et al., (2017). Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. PLoS Genet. 13(4):e1006760. doi: 10.1371/journal.pgen.1006760 .

Long, T., et al. (2017). Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites. Nat Genet 49, 568–578. https://doi.org/10.1038/ng.3809

Submission requirements

Students should select their topic and submit their choice by the end of week 11

The following file types will be accepted (max size 250MB): OpenDocument Text document (.odt), PDF document (.pdf), RTF document (.rtf), Word 2007 document (.docx) or Word document (.doc).

References should be cited within the text and collected at the end in a reference list, which does not contribute to the word count. The referencing can use any conventional style that is consistently applied; it is recommended that accuracy and consistency in referencing are best achieved by using appropriate software such as EndNote or Mendeley.

For example, one suitable format would be the Nature/Nature Genetics reference format, which uses superscripted numbers (in order of appearance) for citations in the text, and a numbered listing of references at the end. Numbered superscripted citations in-text have the advantage that they do not affect the word count. Details of that format can be found at https://www.nature.com/ng/for-authors/preparing-your-submission (about half way down the page), and are built into most releases of EndNote, Mendeley and other software.

Appropriate figures from published sources may be used, but the corresponding figure legend should clearly indicate the source from which it has been taken. All figures, whether original or copied, should be numbered in order and have an explanatory legend.

Hints and Tips for your research

Use a forward citation search (PubMed can do this quickly with the “Cited by” link) to find newer studies that have cited the starter references. Search forward and backwards from the most useful of those new papers.

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