- Abstract:
-
Since the 1980s there has been a steady increase in the number of genes identified which play a role in human disease. The Human Genome Project and arrival of Next Generation Sequencing (NGS) have helped accelerate the rate of discovery such that the recent update of the Human Gene Mutation Database (HGMD) lists over 140 thousand genetic variants linked to human disease. However, causative genes have only been identified in half of the 7000 rare monogenic disorders. It is predicted that wi...
Expand abstract - Role:
- Supervisor
- Role:
- Supervisor
- Institution:
- University of Oxford
- Oxford college:
- Oriel College
- Department:
- Medical Sciences Division - Clinical Medicine,Nuffield Department of - Wellcome Trust Centre for Human Genetics
- Publication date:
- 2014
- Type of award:
- MSc by Research
- Level of award:
- Masters
- Awarding institution:
- Oxford University, UK
- URN:
-
uuid:1e99d291-8d49-4688-9623-5bbf14d923ac
- Local pid:
- ora:10032
- Language:
- English
- Keywords:
- Subjects:
- Copyright holder:
- Malcolm Howard
- Copyright date:
- 2014
- Notes:
- This thesis is not currently available in ORA.
Thesis
Identification of novel genes involved in brain abnormality syndromes using next generation sequencing
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Authors
Contributors
+ Jenny Taylor
+ John Bell
+ Malcolm Freeman Howard
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