- Course overview
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- What is genetic variation
- Variant identification and analysis
- Types of genetic variation studies
- Quiz: Check your learning
- Summary
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- References
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References
- Martincorena and Campbell. 2015. Somatic mutation in cancer and normal cells. Science.Vol. 349, Issue 6255, pp. 1483-1489.
- “The causes of mutations”Understanding Evolution. University of California Museum of Paleontology#. 22 August 2008 http://evolution.berkeley.edu/evolibrary/article/evo_20
- Griffiths AJF, Miller JH, Suzuki DT, et al. 2000. An Introduction to Genetic Analysis. 7th edition. New York: W. H. Freeman.
- Scitable by Nature Edutation 2014. Definition: allele. www.nature.com/scitable/definition/allele-48
- yourgenome, (2017). Copyright information. [online] Available at: https://www.yourgenome.org/glossary/genotype [Accessed 2nd August 2017].
- yourgenome, (2017). Copyright information. [online] Available at: https://www.yourgenome.org/glossary/phenotype [Accessed 2nd August 2017].
- Mathelier, A., Fornes, O., Arenillas, D.J., Chen, C., Denay, G., Lee, J., Shi, W., Shyr, C., Tan, G., Worsley-Hunt, R., et al. (2015). JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 2016 44: D110-D115.
- Studer RA et al. 2013. Residue mutations and their impact on protein structure and function: detecting beneficial and pathogenic changes. Biochemical Journal, 449, 3, 581-594.
- Tsai et al. 1997. Studies of protein-protein interfaces: A statistical analysis of the hydrophobic effect. Protein Science. 6:53-64.
- Lakshminarasimhan et al. 2008. Structural Impact of Three Parkinsonism-Associated Missense Mutations on Human DJ-1. Biochemistry, 47 (5), pp 1381–1392.
- Ipe et al. 2017. High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine. Clinical and translational science. Volume 10, Issue 2
March Pages 67–77. - Richards et al. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. May;17(5):405-24.
- Tucci and Akey. 2016. Population genetics: A map of human wanderlust. Nature 538, 179–180.
- Palmer and Kishony. 2013. Understanding, predicting and manipulating the genotypic evolution of antibiotic resistance. Nat Rev Genet. 14(4): 243–248.
- Population genetics in Virtual Genetics Education Centre. The University of Leicester. Last accessed 7th July 2017. URL: http://www2.le.ac.uk/projects/vgec/schoolscolleges/topics/population-genetics