The human gene damage index as a gene-level approach to prioritizing exome variants

Abstract

Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to select disease-causing candidate mutation(s), a challenge is to filter out as many false-positive (FP) variants as possible. In this study, we describe the gene damage index (GDI), a metric for the nonsynonymous mutational load in each protein-coding gene in the general population. We show that the GDI is an efficient gene-level method for filtering out FP variants in genes that are highly damaged in the general population.

Keywords

ExomeGeneGeneticsExome sequencingBiologyFalse positive paradoxPopulationCoding regionDisease gene identificationHuman genomeComputational biologyGenomeMutationMedicine

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Publication Info

Year: 2015
Type: article
Volume: 112
Issue: 44
Pages: 13615-13620
Citations: 267
Access: Closed

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APA Style

                            
                                
                                    Yuval Itan, 
                                
                                    Lei Shang, 
                                
                                    Bertrand Boisson
                                
                                et al.
                            
                            (2015). 
                            The human gene damage index as a gene-level approach to prioritizing exome variants. 
                            Proceedings of the National Academy of Sciences
                            , 112
                            (44)
                            , 13615-13620.
                            https://doi.org/10.1073/pnas.1518646112
                        

Identifiers

DOI: 10.1073/pnas.1518646112