Methods for determining sequence variants using ultra-deep...

C - Chemistry – Metallurgy – 12 – Q

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Details

C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12Q 1/04 (2006.01) C40B 30/00 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2604095

The claimed invention provides for new sample preparation methods enabling direct sequencing of PCR products using pyrophosphate sequencing techniques. The PCR products may be specific regions of a genome. The techniques provided in this disclosure allows for SNP (single nucleotide polymorphism) detection, classification, and assessment of individual allelic polymorphisms in one individual or a population of individuals. The results may be used for diagnostic and treatment of patients as well as assessment of viral and bacterial population identification.

L'invention concerne de nouveaux procédés de préparation d'échantillons permettant le séquençage direct de produits PCR utilisant des techniques de séquençage de pyrophosphate. Les produits PCR peuvent être des régions spécifiques d'un génome. Les techniques de cette invention permettent la détection de SNP (polymorphismes mononucléotidiques), le classement et l'évaluation de polymorphismes alléliques individuels chez un malade ou une population de malades. Les résultats peuvent être utilisés pour diagnostiquer et traiter des malades tout en évaluant l'identification de la population virale et bactérienne.

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