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Thesis

Application of genomic technologies for molecular diagnosis of genetic diseases

Abstract:

Methods for sequencing deoxyribonucleic acid (DNA) have improved rapidly in the past decade. Recent methods, termed "next-generation sequencing" (NGS), have made sequencing large quantities of DNA economically viable in molecular diagnostics of genetic diseases. This thesis describes some of the first investigations to use NGS for such a purpose.

Several different NGS platforms, each of which differs substantially in terms of sample preparation, chemistry, and sequencing methodology...

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Department:
University of Oxford
Role:
Supervisor
Department:
University of Oxford
Role:
Supervisor
Department:
University of Oxford
Role:
Supervisor
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford

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