Methods and products related to genotyping and dna analysis

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) G06F 17/30 (2006.01)

Patent

CA 2306446

The invention encompasses methods and products related to genotyping. The method of genotyping of the invention is based on the use of single nucleotide polymorphisms (SNPs) to perform high throughput genome scans. The high throughput method can be performed by hybridizing SNP allele-specific oligonucleotides and a reduced complexity genome (RCG). The invention also relates to methods of preparing the SNP specific oligonucleotides and RCGs, methods of fingerprinting, determining allele frequency for an SNP, characterizing tumors, generating a genomic classification code for a genome, identifying previously unknown SNPs, and related compositions and kits.

L'invention concerne un procédé et des produits associés à la détermination d'un génotype. Ce procédé est fondé sur l'utilisation de polymorphismes nucléotidiques simples (SNP) pour réaliser des criblages génomiques à haut rendement. Ce procédé à haut rendement peut être mis en oeuvre par hybridation d'oligonucléotides spécifiques à l'allèle SNP et d'un génome à complexité réduite (RCG). L'invention concerne également des procédés de préparation des oligonucléotides spécifiques au SNP et au RCG, des procédés de cartographie peptidique, de détermination de la fréquence de l'allèle pour un SNP, de caractérisation de tumeurs, de génération d'un code de classification génomique pour un génome, d'identification de SNP inconnus jusqu'ici. L'invention concerne en outre des compositions et des trousses associées audit procédé.

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