Nature Methods 3, 31 - 33 (2006)
Published online: 20 December 2005; | doi:10.1038/nmeth842
Whole-genome genotyping with the single-base extension assayFrank J Steemers1, Weihua Chang1, Grace Lee1, 2, David L Barker1, Richard Shen1
& Kevin L Gunderson11
Illumina, Inc., 9885 Towne Centre Drive, San Diego, California 92121, USA. 2
Present address: Veridex LLC, Johnson & Johnson, 3210 Merryfield Row, San Diego, California 92121, USA.
Correspondence should be addressed to Kevin L Gunderson kgunderson@illumina.com 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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