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PMID: 16369550 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

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

Nature methods ·Vol. 3 ·No. 1 ·2006-01-00 ·Pages 31-3

Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL

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.

MeSH Terms

DNA Primers/chemistry Genome, Human/genetics Genomics/economics,methods Genotype Humans Nucleotides/chemistry Polymorphism, Single Nucleotide Reproducibility of Results Sensitivity and Specificity

Chemicals

DNA Primers Nucleotides

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Steemers Frank J

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

Chang Weihua

Lee Grace

Barker David L

Shen Richard

Gunderson Kevin L

Article Info

Journal

Nature methods

Abbr.

Nat Methods

ISSN

1548-7091

DOI

10.1038/nmeth842

Published

2006-01-00

Pages

31-3

Language

English

Region

United States

NLM ID

101215604

Subset

Grants

NCI NIH HHS · R44 CA103406 · United States

NCI NIH HHS · 1R43CA108391-01 · United States

NCI NIH HHS · 2R44CA103406-02 · United States

External Links

PubMed source DOI: 10.1038/nmeth842 View journal details

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