期刊
NATURE GENETICS
卷 38, 期 1, 页码 75-81出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1697
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资金
- NIGMS NIH HHS [GM07197] Funding Source: Medline
- Wellcome Trust Funding Source: Medline
Recent work has shown that copy number polymorphism is an important class of genetic variation in human genomes(1-4). Here we report a new method that uses SNP genotype data from parent-offspring trios to identify polymorphic deletions. We applied this method to data from the International HapMap Project(5) to produce the first high-resolution population surveys of deletion polymorphism. Approximately 100 of these deletions have been experimentally validated using comparative genome hybridization on tiling-resolution oligonucleotide microarrays. Our analysis identifies a total of 586 distinct regions that harbor deletion polymorphisms in one or more of the families. Notably, we estimate that typical individuals are hemizygous for roughly 30 - 50 deletions larger than 5 kb, totaling around 550 - 750 kb of euchromatic sequence across their genomes. The detected deletions span a total of 267 known and predicted genes. Overall, however, the deleted regions are relatively gene-poor, consistent with the action of purifying selection against deletions. Deletion polymorphisms may well have an important role in the genetics of complex traits; however, they are not directly observed in most current gene mapping studies. Our new method will permit the identification of deletion polymorphisms in high-density SNP surveys of trio or other family data.
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