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Nat Methods. 2006 Jan;3(1):31-3.

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

Author information

1
Illumina, Inc., 9885 Towne Centre Drive, San Diego, California 92121, USA.

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.

PMID:
16369550
DOI:
10.1038/nmeth842
[Indexed for MEDLINE]

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