title: 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.
authors.affiliation: Illumina, Inc., 9885 Towne Centre Drive, San Diego, California 92121, USA.
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Steemers
authors.forename: Weihua
authors.initials: W
authors.lastname: Chang
authors.forename: Grace
authors.initials: G
authors.lastname: Lee
authors.forename: David L
authors.initials: DL
authors.lastname: Barker
authors.forename: Richard
authors.initials: R
authors.lastname: Shen
authors.forename: Kevin L
authors.initials: KL
authors.lastname: Gunderson
mesh_terms: D017931:DNA Primers / Q000737:chemistry*; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000191:economics / Q000379:methods*; D005838:Genotype; D006801:Humans; D009711:Nucleotides / Q000737:chemistry; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D017931:DNA Primers; D009711:Nucleotides