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Thesis

Clustering genes by function to understand disease phenotypes

Abstract:

Developmental disorders including: autism, intellectual disability, and congenital abnormalities are present in 3-8% of live births and display a huge amount of phenotypic and genetic heterogeneity. Traditionally, geneticists have identified individual monogenic diseases among these patients but a majority of patients fail to receive a clinical diagnosis. However, the genomes of these patients frequently harbour large copynumber variants (CNVs) but their interpretation remains challenging. Us...

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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author

Contributors

Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Clarendon Fund More from this funder
Natural Sciences and Engineering Research Council of Canada More from this funder
Somerville College More from this funder
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Keywords:
Subjects:
UUID:
uuid:06bfce1f-4ae0-4715-9ee3-290c43ae9b18
Deposit date:
2015-11-08

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