Describe process by which causative mutation was identified
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Human Genetics Question -

When the exome of someone suspected of suffering from a suspected Mendelian disorder is sequenced, there are likely to be 20,000 variants. Choose three case studies cited in either of these reviews (Boycott et al., 2013; Bamshad et al., 2011). Describe the process by which causative mutation was identified in each of the examples you choose. You will need to read and understand the original paper cited in the review. Credit will be awarded for essays that show understanding of the principles rather than a reformulation of the technical detail in the papers.


1. Bamshad,M.J., Ng,S.B., Bigham,A.W., Tabor,H.K., Emond,M.J., Nickerson,D.A., and Shendure,J. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745-755.

2. Boycott,K.M., Vanstone,M.R., Bulman,D.E., and MacKenzie,A.E. (2013) Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14: 681-691.

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