Whole-genome genotyping with the single-base extension assay.

Steemers, Frank J; Chang, Weihua; Lee, Grace; Barker, David L; Shen, Richard; Gunderson, Kevin L · Nat Methods · 2006

basic_science · Level V

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Abstract

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 scalability, throughput and accuracy of the system by resequencing homozygous loci from our 100k Human-1 Genotyping BeadChip.

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