Whole-genome genotyping with the single-base extension assay.
basic_science · Level V
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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.
Medical subject headings
- DNA Primers
- Genome, Human
- Genomics
- Polymorphism, Single Nucleotide