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Medical relevance and functional consequences of protein truncating variants

Abstract:

Genome-wide association studies have greatly improved our understanding of the contribution of common variants to the genetic architecture of complex traits. However, two major limitations have been highlighted. First, common variant associations typically do not identify the causal variant and/or the gene that it is exerting its effect on to influence a trait. Second, common variant associations usually consist of variants with small effects. As a consequence, it is more challenging to ha...

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Institution:
University of Oxford
Research group:
Donnelly and McCarthy
Oxford college:
Green College
Department:
Medical Sciences Division - Clinical Medicine,Nuffield Department of - Human Genetics,Wellcome Trust Centre for
Role:
Author

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Supervisor
Role:
Supervisor
Publication date:
2015
Type of award:
DPhil
Level of award:
Doctoral
URN:
uuid:a042ca18-7b35-4a62-aef0-e3ba2e8795f7
Local pid:
ora:12195

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