Systematic assessment of copy number variant detection via genome-wide SNP genotyping

被引：0
作者：
Gregory M Cooper
Troy Zerr
Jeffrey M Kidd
Evan E Eichler
Deborah A Nickerson
机构：
[1] University of Washington,Department of Genome Sciences
[2] Howard Hughes Medical Institute.,undefined
来源：
Nature Genetics | 2008年 / 40卷
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摘要：
Evan Eichler and colleagues present an analysis of how well current commercial SNP platforms accurately capture copy number variants (CNVs). Although they were able accurately predict from Illumina Human 1M genotype data many sites identified in their recent study assessing CNVs in nine human individuals with a fosmid paired-end sequence approach, they find that commonly used platforms offer limited coverage for a large fraction of CNVs.
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页码：1199 / 1203
页数：4
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