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Unit information: The Human Genome in 2016/17

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Unit name The Human Genome
Unit code SSCM30007
Credit points 20
Level of study H/6
Teaching block(s) Teaching Block 1 (weeks 1 - 12)
Unit director Professor. Timpson
Open unit status Not open

This is part of an intercalated BSc for Medical, Veterinary or Dental students



School/department Bristol Medical School
Faculty Faculty of Health Sciences


The structure of our genome and the inhabitants of the genomic zoo, how genes are regulated, how genomes vary between people, and how DNA sequence relates to epigenomics, transcriptomics, proteomics and metabolomics.

Intended learning outcomes

After this component of the course, students will be able to:

1) describe the structure and function of the human genome

2) describe the ways the genome is regulated

3) describe how DNA varies between people, and reason about the effects of this variation

4) discuss how Mendelian and complex traits are inherited

5) relate DNA variation to variation in higher level ‘omics

Teaching details

Methods of Teaching

This unit will be delivered in the form of workshops using a variety of methods including interactive lectures, presentations, debates and seminars.

Contact Hours Per Week 2

Student Input

20 contact hours, 20 hours coursework, half of a 3 hour exam, 150 hours independent study

Assessment Details

Assessment Details

This part of the course will be assessed as one third of written Paper 1 and through 2 written essays during the unit and 1 oral presentation. Written paper 1 will be composed of both multiple choice questions and short answer questions and one third of this three-hour exam will be based on this unit. The two in-unit essays will follow the format of 3000 word, reading list provided, reports which will be graded according to university guidelines and the oral presentation will be delivered as either a short seminar or debate. Overall, paper1 will form 35% of the course mark, with 15% coming from the oral presentation for the short units.

Methods of assessment: written 70%; coursework 30%

Reading and References

Lewin – Genes XI - 2013

Strachan and Read – Human Molecular Genetics – 4th Edition - 2010

Hartl and Clark – Principles of Population Genetics – 4th Edition - 2007

Devlin B, Risch N (1995) A comparison of linkage disequilibrium measures for fine-scale mapping. Genomics 29: 311-322.

Devlin B, Roeder K (1999) Genomic control for association studies. Biometrics 55: 997-1004.

Marchini J, Cardon LR, Phillips MS, Donnelly P (2004) Genomic Control to the Extreme. Nature Genetics 36: 1129-1131.

Marchini J, Cardon LR, Phillips MS, Donnelly P (2004) The effects of human population structure on large genetic association studies. Nature Genetics 36: 512-517.

HAPMAP (2005) A haplotype map opf the human genome. Nature 437: 1299-1320.

Marchini J, Donnelly P, Cardon LR (2005) Genome-wide strategies for detecting multiple loci that influence complex diseases. Nature Genetics 37: 413-417.

Maller J, George S, Purcell S, Fagerness J, Altshuler D, Daly M, Seddon JM (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.

Nature Genetics 38: 1055-1059.

Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nature Genetics 38: 904-909.

HAPMAP (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861.

The Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 447: 661-678.

Daetwyler HD, Villanueva B, Woolliams JA (2008) Accuracy of predicting the genetic risk of disease using a genome-wide approach. PLoS ONE [Electronic Resource] 3: e3395.

Hill WG, Goddard ME, Visscher PM (2008) Data and Theory Point to Mainly Additive Genetic Variance for Complex Traits. PLoS Genet 4: e1000008.

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN, McCarthy MI, Abecasis GR, Cardon LR, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.

Visscher PM, Hill WG, Wray NR (2008) Heritability in the genomics era - concepts and misconceptions. Nat Rev Genet 9: 255-266.

Houle D (2011) Measurement and meaning in biology. 86: 3-34.

ENCODE (2011) A user's guide to the encyclopedia of DNA elements (ENCODE). PLoS Biology 9.

ENCODE (2012) An integrated encyclopedia of DNA elements in the human genome. Nature 489: 57-74.