A highly informative SNP linkage panel for human genetic studies

被引：52

作者：

Murray, SS ^{[1
]}

Oliphant, A ^{[1
]}

Shen, R ^{[1
]}

McBride, C ^{[1
]}

Steeke, RJ ^{[1
]}

Shannon, SG ^{[1
]}

Rubano, T ^{[1
]}

Kermani, BG ^{[1
]}

Fan, JB ^{[1
]}

Chee, MS ^{[1
]}

Hansen, MST ^{[1
]}

机构：

[1] Illumina Inc, San Diego, CA 92121 USA

来源：

NATURE METHODS | 2004年 / 1卷 / 02期

关键词：

D O I：

10.1038/NMETH712

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We have developed a highly informative set of single-nucleotide polymorphism (SNP) assays designed for Linkage mapping of the human genome. These assays were developed on a robust multiplexed assay system to provide a combination of very high accuracy and data completeness with high throughput for Linkage studies. The linkage panel is comprised of approximately 4,700 SNPs with 0.39 average minor allele frequency and 624-kb average spacing. Based on almost 2 million genotypes, data quality was shown to be extremely high, with a 99.94% call rate, >99.99% reproducibility and 99.995% genotypes consistent with mendelian inheritance. We constructed a genetic map with an average 1.5-cM resolution using series of 28 CEPH pedigrees. The relative information content of this panel was higher than those of commonly used STR marker panels. The potent combination of this SNP Linkage panel with the multiplexed assay system provides a previously unattainable level of performance for Linkage studies.

引用

页码：113 / 117

页数：5

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