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Thesis

Functional genetics of cancer and congenital disorders

Abstract:

The genetic architectures of cancer and congenital disorders are heterogeneous and incompletely mapped. Rare and low-frequency variants of incomplete penetrance are emerging as an important class of germline and somatic variation, but their contribution to disease remains poorly characterised. This thesis aims to identify and assess pathogenic mutations in the 1q41q42 microdeletion syndrome, neural tube defects, neuropsychiatric disorders and cancer. Rare microdeletions at the 1q41q42 locu...

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Authors


Jaroslav Zak More by this author

Contributors

Role:
Examiner
Department:
Edinburgh University
Role:
Examiner
Role:
Supervisor
Department:
TSRI
Role:
Supervisor
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Funding agency for:
Jaroslav Zak
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Grant:
5R01AI123210-02
Funding agency for:
Project
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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