Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/16420
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dc.contributor.authorGussow, Ayal B-
dc.contributor.authorPetrovski, Slavé-
dc.contributor.authorWang, Quanli-
dc.contributor.authorAllen, Andrew S-
dc.contributor.authorGoldstein, David B-
dc.date.accessioned2016-11-17T06:36:41Z-
dc.date.available2016-11-17T06:36:41Z-
dc.date.issued2016-01-18-
dc.identifier.citationGenome Biology 2016; 17: 9en_US
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/16420-
dc.description.abstractRanking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established, however, that different parts of proteins can have different functions, suggesting that it will ultimately be more informative to focus attention on functionally distinct portions of genes. Here we evaluate the intolerance of genic sub-regions using two biological sub-region classifications. We show that the intolerance scores of these sub-regions significantly correlate with reported pathogenic mutations. This observation extends the utility of intolerance scores to indicating where pathogenic mutations are mostly likely to fall within genes.en_US
dc.subjectGenetic Variationen_US
dc.subjectGenome, Humanen_US
dc.subjectProtein Structure, Tertiary - Geneticen_US
dc.titleThe intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genesen_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleGenome Biologyen_US
dc.identifier.affiliationInstitute for Genomic Medicine, Columbia University, New York, NY, USAen_US
dc.identifier.affiliationProgram in Computational Biology and Bioinformatics, Duke University, Durham, NC, USAen_US
dc.identifier.affiliationDepartment of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria, Australiaen_US
dc.identifier.affiliationDepartment of Biostatistics and Bioinformatics, Duke University, Durham, NC, USAen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/26781712en_US
dc.identifier.doi10.1186/s13059-016-0869-4en_US
dc.type.contentTexten_US
dc.type.austinJournal Articleen_US
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeJournal Article-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.fulltextNo Fulltext-
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