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Oxford University Press (OUP), Bioinformatics, 10(31), p. 1536-1543

DOI: 10.1093/bioinformatics/btv009

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An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Journal article published in 2015 by Hashem A. Shihab, Mark F. Rogers, Julian Gough, Matthew Mort, David N. Cooper, Ian N. M. Day, Tom R. Gaunt ORCID, Colin Campbell
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 annotations, which have recently become available, and learns to weight the significance of each component annotation source.