Article
An integrative approach to predicting the functional effects of non-coding and coding sequence variation.
Bioinformatics (Oxford, England) - 15 May 2015
Shihab Hashem A, Rogers Mark F, Gough Julian, Mort Matthew, Cooper David N, Day Ian N M, Gaunt Tom R, Campbell Colin
Abstract excerpt
MOTIVATION: Technological advances have enabled the identification of an increasingly large spectrum of single nucleotide variants within the human genome, many of which may be associated with monogenic disease or complex traits. Here, we propose an integrative approach, named FATHMM-MKL, to predict the functional consequences of both coding and non-coding sequence variants. Our method utilizes various genomic...
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