| http://purl.uniprot.org/citations/26975778 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26975778 | http://www.w3.org/2000/01/rdf-schema#comment | "We can now routinely identify coding variants within individual human genomes. A pressing challenge is to determine which variants disrupt the function of disease-associated genes. Both experimental and computational methods exist to predict pathogenicity of human genetic variation. However, a systematic performance comparison between them has been lacking. Therefore, we developed and exploited a panel of 26 yeast-based functional complementation assays to measure the impact of 179 variants (101 disease- and 78 non-disease-associated variants) from 22 human disease genes. Using the resulting reference standard, we show that experimental functional assays in a 1-billion-year diverged model organism can identify pathogenic alleles with significantly higher precision and specificity than current computational methods."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.org/dc/terms/identifier | "doi:10.1101/gr.192526.115"xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Tan G."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Yang F."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Yi S."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Sun S."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Yu A."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Vidal M."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Tyagi T."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Hill D.E."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Roth F.P."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Costanzo M."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Boone C."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Andrews B.J."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Bansal P."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Sahni N."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Dolinski K."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Hirschman J."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Theesfeld C.L."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Oughtred R."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/author | "Tie C."xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/name | "Genome Res"xsd:string |
| http://purl.uniprot.org/citations/26975778 | http://purl.uniprot.org/core/pages | "670-680"xsd:string |