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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Alkan, Can Shendure, Jay Kitzman, Jacob O. Malig, Maika Bruhn, Laurakay Tsalenko, Anya Sudmant, Peter H. Sampas, Nick Eichler, Evan E. Antonacci, Francesca |
| Organization | 1000 Genomes Project |
| Description | Author Affiliation: Sudmant PH ( Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.) |
| Abstract | 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. |
| ISSN | 00368075 |
| e-ISSN | 10959203 |
| Journal | Science |
| Issue Number | 6004 |
| Volume Number | 330 |
| Language | English |
| Publisher | American Association for the Advancement of Science (United States) |
| Publisher Date | 2010-10-29 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | DNA Copy Number Variations Gene Dosage Gene Duplication Genetic Variation Genome, Human Genomics Chromosome Mapping Continental Population Groups Genetics Databases, Nucleic Acid Evolution, Molecular Gene Conversion Gene Frequency Genes, Duplicate Genotype Haplotypes Polymorphism, Single Nucleotide Sequence Analysis, DNA Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | History and Philosophy of Science |
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