Thesis icon

Thesis

Identifying causative elements within structural variants associated with developmental disorders

Abstract:

It has been well established that copy number variation contributes substantially to genetic variation within human populations. However, the extent to which de novo and inherited copy number variants (CNVs) underlie human disease is not well known. In this thesis, I investigate the role of de novo and inherited CNVs in a wide range of developmental abnormalities.

First, I compare disease associated and apparently benign CNVs for structural differences, with the aim of identifying d...

Expand abstract

Actions


Access Document


Files:

Authors


More by this author
Division:
MSD
Department:
Physiology Anatomy & Genetics
Oxford college:
Hertford College
Role:
Author

Contributors

Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
More from this funder
Funding agency for:
Boulding, H
Publication date:
2013
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
Subjects:
UUID:
uuid:d9af47cc-1c91-4a66-a6ac-86655f1ff375
Local pid:
ora:7250
Deposit date:
2013-09-03

Terms of use


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