Document Detail

Evolution of genetic and genomic features unique to the human lineage.
MedLine Citation:
PMID:  23154808     Owner:  NLM     Status:  MEDLINE    
Given the unprecedented tools that are now available for rapidly comparing genomes, the identification and study of genetic and genomic changes that are unique to our species have accelerated, and we are entering a golden age of human evolutionary genomics. Here we provide an overview of these efforts, highlighting important recent discoveries, examples of the different types of human-specific genomic and genetic changes identified, and salient trends, such as the localization of evolutionary adaptive changes to complex loci that are highly enriched for disease associations. Finally, we discuss the remaining challenges, such as the incomplete nature of current genome sequence assemblies and difficulties in linking human-specific genomic changes to human-specific phenotypic traits.
Majesta O'Bleness; Veronica B Searles; Ajit Varki; Pascal Gagneux; James M Sikela
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Nature reviews. Genetics     Volume:  13     ISSN:  1471-0064     ISO Abbreviation:  Nat. Rev. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-16     Completed Date:  2013-01-17     Revised Date:  2014-08-05    
Medline Journal Info:
Nlm Unique ID:  100962779     Medline TA:  Nat Rev Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  853-66     Citation Subset:  IM    
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MeSH Terms
Chromosomes, Human / genetics
Comparative Genomic Hybridization
Evolution, Molecular*
Genetic Speciation
Genome, Human*
Genomics / trends
Hominidae / genetics
Primates / genetics
Species Specificity
Grant Support

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