A system and method for snp genotype clustering

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) G06F 19/00 (2006.01) G06N 3/00 (2006.01) C12N 15/09 (2006.01)

Patent

CA 2490766

A system and methods for evaluating genetic information and biological data applying a clustering approach which may be used for allele calling and genotyping. Statistical analysis of sample data is performed at various levels to develop a model which associates individual data points with selected genotyping clusters and provides a relative indication of the call confidence. The methods provide a unified framework for allele-calling in many different contexts and may be applied to the data acquired from various identification methodologies.

L'invention concerne un système et des méthodes d'évaluation d'informations génétiques et de données biologiques, par application d'une approche de regroupement pouvant être utilisée dans la classification et le génotypage des allèles. L'analyse statistique des données d'échantillonnage s'effectue à divers niveaux pour mettre au point un modèle associant des points de données individuels à des groupes de génotypage sélectionnés, et fournit une indication relative de la fiabilité de la classification. Ces méthodes fournissent un cadre unifié de classification des allèles dans de nombreux contextes différents, et peuvent s'appliquer aux données acquises de diverses méthodologies d'identification.

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