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Science:人类拷贝数变异及多拷贝基因的多样性(Diversity of Human Copy Number Variation and Multicopy Genes)  

2010-11-05 21:44:34|  分类: 每日科学 |  标签: |举报 |字号 订阅

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Peter H. Sudmant,1,* Jacob O. Kitzman,1,* Francesca Antonacci,1 Can Alkan,1 Maika Malig,1 Anya Tsalenko,2 Nick Sampas,2 Laurakay Bruhn,2 Jay Shendure,1 1000 Genomes Project,{dagger} Evan E. Eichler1,3,{ddagger}

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.

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.

* These authors contributed equally to this work.

{dagger} A full list of participants and institutions is available in the SOM online.

{ddagger} To whom correspondence should be addressed. E-mail: eee@gs.washington.edu

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