Thesis icon

Thesis

Identification of novel genes involved in brain abnormality syndromes using next generation sequencing

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

Actions


Authors


Contributors

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

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP