| http://purl.uniprot.org/citations/21993624 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21993624 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21993624 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21993624 | http://www.w3.org/2000/01/rdf-schema#comment | "The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering ∼4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for ∼60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate- and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature10530"xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature10530"xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.org/dc/terms/identifier | "doi:10.1038/nature10530"xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Birney E."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Birney E."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Birney E."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Delehaunty K."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Delehaunty K."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Delehaunty K."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Bloom T."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Bloom T."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Bloom T."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chin C.W."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chin C.W."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chin C.W."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chang J."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chang J."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Chang J."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Clamp M."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Clamp M."xsd:string |
| http://purl.uniprot.org/citations/21993624 | http://purl.uniprot.org/core/author | "Clamp M."xsd:string |