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Semantic prioritization of novel causative genomic variants

Published version
Peer-reviewed

Type

Article

Change log

Authors

Boudellioua, I 
Mahamad Razali, RB 
Kulmanov, M 
Hashish, Y 
Bajic, VB 

Abstract

Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate the PhenomeNET Variant Predictor (PVP) system that exploits semantic technologies and automated reasoning over genotype-phenotype relations to filter and prioritize variants in whole exome and whole genome sequencing datasets. We demonstrate the performance of PVP in identifying causative variants on a large number of synthetic whole exome and whole genome sequences, covering a wide range of diseases and syndromes. In a retrospective study, we further illustrate the application of PVP for the interpretation of whole exome sequencing data in patients suffering from congenital hypothyroidism. We find that PVP accurately identifies causative variants in whole exome and whole genome sequencing datasets and provides a powerful resource for the discovery of causal variants.

Description

Keywords

algorithms, computational biology, exome, genetic variation, genome, humans, molecular sequence annotation, phenotype, retrospective studies, semantics

Journal Title

PLoS Computational Biology

Conference Name

Journal ISSN

1553-734X
1553-7358

Volume Title

13

Publisher

Public Library of Science (PLoS)
Sponsorship
Medical Research Council (MC_UU_12012/5)
Wellcome Trust (100585/Z/12/Z)
Medical Research Council (MC_PC_12012)
NS was funded by Wellcome Trust (Grant 100585/Z/12/Z) and the National Institute for Health Research Cambridge Biomedical Research Centre. IB, RBMR, MK, YH, VBB, RH were funded by the King Abdullah University of Science and Technology. GVG acknowledges funding from the National Science Foundation (NSF grant number: IOS-1340112) and the European Commision H2020 (Grant Agreement No. 731075).