Whole-genome genotyping with the single-base extension assay

Frank J. Steemers; Weihua Chang; Grace Lee; David Barker; Richard Shen; Kevin L. Gunderson

doi:10.1038/nmeth842

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.

Keywords

GenotypingSingle-nucleotide polymorphismSNP genotypingInternational HapMap ProjectGeneticsBiologyLocus (genetics)SNPMolecular Inversion ProbeComputational biologyHuman genomeGenomeGenotypeGene

MeSH Terms

DNA PrimersGenomeHumanGenomicsGenotypeHumansNucleotidesPolymorphismSingle NucleotideReproducibility of ResultsSensitivity and Specificity

Affiliated Institutions

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Publication Info

Year: 2005
Type: article
Volume: 3
Issue: 1
Pages: 31-33
Citations: 371
Access: Closed

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APA Style

                            
                                
                                    Frank J. Steemers, 
                                
                                    Weihua Chang, 
                                
                                    Grace Lee
                                
                                et al.
                            
                            (2005). 
                            Whole-genome genotyping with the single-base extension assay. 
                            Nature Methods
                            , 3
                            (1)
                            , 31-33.
                            https://doi.org/10.1038/nmeth842
                        

Identifiers

DOI: 10.1038/nmeth842
PMID: 16369550

Data Quality

Data completeness: 86%