Whole-genome genotyping with the single-base extension assay

被引：252

作者：

Steemers, FJ ^{[1
]}

Chang, WH ^{[1
]}

Lee, G ^{[1
]}

Barker, DL ^{[1
]}

Shen, R ^{[1
]}

Gunderson, KL ^{[1
]}

机构：

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

来源：

NATURE METHODS | 2006年 / 3卷 / 01期

关键词：

D O I：

10.1038/NMETH842

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

We describe an efficient, accurate and robust whole-genome genotyping (WGG) assay based on a two-color, single-base extension (SBE), single-nucleotide polymorphism (SNP)-scoring step. We report genotyping results for biallelic International HapMap quality control (QC) SNPs using a single probe per locus. We show scalabitity, throughput and accuracy of the system by resequencing homozygous loci from our 100k Human-1 Genotyping BeadChip.

引用

页码：31 / 33

页数：3

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