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          Institute: MPI für molekulare Genetik     Collection: Department of Vertebrate Genomics     Display Documents



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ID: 552740.0, MPI für molekulare Genetik / Department of Vertebrate Genomics
Diversity of human copy number variation and multicopy genes.
Authors:Sudmant, P. H.; Kitzman, J. O.; Antonacci, F.; Alkan, C.; Malig, M.; Tsalenko, A.; Sampas, N.; Bruhn, L.; Shendure, J.; 1000 Genomes Project, 1000 G. P.; Eichler, E. E.; Abecasis, G. R.; Altshuler, D. L.; Auton, A.; Brooks, L. D.; Durbin, R. M.; Gibbs, R. A.; Hurles, M. E.; McVean, G. A.
Language:English
Date of Publication (YYYY-MM-DD):2010-10-29
Title of Journal:Science
Journal Abbrev.:Scie
Volume:330
Issue / Number:6004
Start Page:641
End Page:646
Copyright:© 2010 American Association for the Advancement of Science. All Rights Reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for duplications as small as 1.9 kilobase pairs, ranging from 0 to 48 copies. We identified 4.1 million “singly unique nucleotide” positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families. These data identify human-specific expansions in genes associated with brain development, reveal extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species. Our approach makes ~1000 genes accessible to genetic studies of disease association.
Comment of the Author/Creator:Correspondence:
E-mail: eee@gs.washington.edu
External Publication Status:published
Document Type:Article
Communicated by:Hans Lehrach
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA;
2.Agilent Technologies, Santa Clara, CA 95051, USA;
3.Howard Hughes Medical Institute, Seattle, WA 98195, USA.
Identifiers:ISSN:0036-8075
DOI:10.1126/science.1197005
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