Whole-genome genotyping with the single-base extension assay
- PMID: 16369550
- DOI: 10.1038/nmeth842
Whole-genome genotyping with the single-base extension assay
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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