Whole-genome genotyping with the single-base extension assay
FJ Steemers, W Chang, G Lee, DL Barker, R Shen… - Nature …, 2006 - nature.com
FJ Steemers, W Chang, G Lee, DL Barker, R Shen, KL Gunderson
Nature methods, 2006•nature.comWe 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.
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.
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.
nature.com
