A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher; Daniela Witten; Preti Jain; Brian J. O’Roak; Gregory M. Cooper; Jay Shendure

doi:10.1038/ng.2892

Keywords

BiologyAnnotationMissense mutationAlleleComputational biologyGeneticsHuman genetic variationHuman genomeTraitSingle-nucleotide polymorphismGenomeGenetic variationPathogenicity1000 Genomes ProjectGeneGenotypeMutationComputer science

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Publication Info

Year: 2014
Type: article
Volume: 46
Issue: 3
Pages: 310-315
Citations: 6271
Access: Closed

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APA Style

                            
                                
                                    Martin Kircher, 
                                
                                    Daniela Witten, 
                                
                                    Preti Jain
                                
                                et al.
                            
                            (2014). 
                            A general framework for estimating the relative pathogenicity of human genetic variants. 
                            Nature Genetics
                            , 46
                            (3)
                            , 310-315.
                            https://doi.org/10.1038/ng.2892
                        

Identifiers

DOI: 10.1038/ng.2892