Statistical approaches for copy number variation detection and association with complex human phenotypes

Copy number variants (CNVs) play an important role in the disease pathogenesis, including epilepsy, diabetes and many others. CNVs, are also known to affect cellular phenotypes through several phenomenon such as gene dosage. Next generation technologies for sequencing (DNA and RNA) and metabolite pr...

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Bibliographic Details
Main Author: De, Tisham
Other Authors: Coin, Lachlan ; Prokopenko, Inga
Published: Imperial College London 2014
Subjects:
Online Access:http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.712843