{"doi":"10.1038/nature10530","title":"A high-resolution map of human evolutionary constraint using 29 mammals","abstract":"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.","journal":"Nature","year":2011,"id":4162,"datarank":10.366574724336767,"base_score":7.099201743553092,"endowment":7.099201743553092,"self_citation_contribution":1.064880261532964,"citation_network_contribution":9.301694462803802,"self_endowment_contribution":1.064880261532964,"citer_contribution":9.301694462803802,"corpus_percentile":79.65825874694873,"corpus_rank":251,"citation_count":1210,"citer_count":148,"citers_with_citation_signal":148,"citers_with_endowment":148,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.8603,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2011-10-01","algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":41918,"name":"Genome Institute at Washington University","orcid":null,"position":3,"is_corresponding":false},{"id":18974,"name":"Manuel Garber","orcid":"0000-0001-8732-1293","position":4,"is_corresponding":false},{"id":6482,"name":"Or Zuk","orcid":"0000-0001-7587-2944","position":5,"is_corresponding":false},{"id":22205,"name":"Alireza Heravi-Moussavi","orcid":null,"position":6,"is_corresponding":false},{"id":36155,"name":"Wouter Meuleman","orcid":"0000-0002-1196-5401","position":7,"is_corresponding":false},{"id":18973,"name":"Stefan Washietl","orcid":null,"position":8,"is_corresponding":false},{"id":21276,"name":"Yanxiao Zhang","orcid":"0000-0001-9618-637X","position":9,"is_corresponding":false},{"id":859,"name":"Jason Ernst","orcid":"0000-0003-4026-7853","position":10,"is_corresponding":false},{"id":25077,"name":"Evan Mauceli","orcid":null,"position":12,"is_corresponding":false},{"id":7021,"name":"Lucas D. Ward","orcid":"0000-0002-8017-809X","position":13,"is_corresponding":false},{"id":41921,"name":"Craig B. Lowe","orcid":"0000-0002-6838-1976","position":14,"is_corresponding":false},{"id":20072,"name":"Michele Clamp","orcid":null,"position":16,"is_corresponding":false},{"id":20074,"name":"Sante Gnerre","orcid":null,"position":17,"is_corresponding":false},{"id":968,"name":"Jessica Alföldi","orcid":"0000-0001-9713-6200","position":18,"is_corresponding":false},{"id":19041,"name":"Kathryn Beal","orcid":"0000-0001-5271-8733","position":19,"is_corresponding":false},{"id":42976,"name":"Katherine Fisher-Aylor","orcid":"0000-0003-3371-2947","position":21,"is_corresponding":false},{"id":32862,"name":"Vyacheslav Amstislavskiy","orcid":"0000-0002-1384-7599","position":22,"is_corresponding":false},{"id":41924,"name":"Federica Di Palma","orcid":"0000-0002-4394-0102","position":23,"is_corresponding":false},{"id":41925,"name":"Stephen Fitzgerald","orcid":"0000-0001-5025-3733","position":24,"is_corresponding":false},{"id":28755,"name":"Mitchell Guttman","orcid":"0000-0003-4748-9352","position":26,"is_corresponding":false},{"id":41926,"name":"Melissa J. 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