4.8 Article

Whole-genome genotyping with the single-base extension assay

Journal

NATURE METHODS
Volume 3, Issue 1, Pages 31-33

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/NMETH842

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Funding

  1. NCI NIH HHS [2R44CA103406-02, 1R43CA108391-01, R44 CA103406] Funding Source: Medline
  2. NATIONAL CANCER INSTITUTE [R43CA108391, R44CA103406] Funding Source: NIH RePORTER

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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 scalabitity, throughput and accuracy of the system by resequencing homozygous loci from our 100k Human-1 Genotyping BeadChip.

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