GenoSNP -- SNP genotyping

What you can do:
A Variational Bayes within-sample SNP genotyping algorithm that does not require a reference population.
Highlights:
  • We have developed a SNP genotyping algorithm for the Illumina Infinium SNP genotyping assay that is entirely within-sample and does not require the need for a population of control samples nor parameters derived from such a population.
  • Our algorithm exhibits high concordance with current methods and > 99% call accuracy on HapMap samples.
  • The ability to call genotypes using only within-sample information makes the method computationally light and practical for studies involving small sample sizes and provides a valuable independent quality control metric for other population based approaches.
Keywords:
  • SNP
  • single nucleotide polymorphism
  • SNP genotyping
  • genotyping algorithm
  • genotyping assay
This record last updated: 08-04-2008

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