Remember Me
Or use your Academic/Social account:


Or use your Academic/Social account:


You have just completed your registration at OpenAire.

Before you can login to the site, you will need to activate your account. An e-mail will be sent to you with the proper instructions.


Please note that this site is currently undergoing Beta testing.
Any new content you create is not guaranteed to be present to the final version of the site upon release.

Thank you for your patience,
OpenAire Dev Team.

Close This Message


Verify Password:
Verify E-mail:
*All Fields Are Required.
Please Verify You Are Human:
fbtwitterlinkedinvimeoflicker grey 14rssslideshare1
Genomes, 1000; Alkan, C. (2012)
Publisher: Nature Publishing Group
Languages: English
Types: Article
Subjects: Transcription Factor, Nucleotide Motifs, Natural Selection, Evolution, Molecular, Genome, Human/genetics, Sequence Deletion/genetics, Polymorphism, Evolutionary Biology, Human Evolution, Conserved Sequence/genetics, Genomics, Transcription Factors/metabolism, Continental Population Groups/genetics, Map, Alleles, Binding Sites/genetics, Algorithm, Genoma humà, Genetic Variation/genetics, Genetic Variation, Article, Genetics, Medical, Genetic Analysis, Integrated Approach, Genome-Wide Association Study, Human genome, Genetics, Population, Haplotypes/genetics, Humans, Polymorphism, Single Nucleotide/genetics, Untranslated Rna
ddc: ddc:576.5
Cataloged from PDF version of article. By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations. © 2012 Macmillan Publishers Limited. All rights reserved.

Share - Bookmark

Funded by projects

Cite this article