Genetic diagnosis using multiple sequence variant analysis

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C40B 30/02 (2006.01) G06F 19/00 (2006.01)

Patent

CA 2600824

The present invention is in the field of nucleic acid-based genetic analysis. More particularly, it discloses novel insights into the overall structure of genetic variation in all living species. The structure can be revealed with the use of any data set of genetic variants from a particular locus. The invention is useful to define the subset of variations that are most suited as genetic markers to search for correlations with certain phenotypic traits. Additionally, the insights are useful for the development of algorithms and computer programs that convert genotype data into the constituent haplotypes that are laborious and costly to derive in an experimental way. The invention is useful in areas such as (i) genome- wide association studies, (ii) clinical in vitro diagnosis, (iii) plant and animal breeding, (iv) the identification of micro-organisms.

La présente invention se situe dans le domaine de l'analyse génétique fondée sur les acides nucléiques. De manière plus particulière, cette invention apporte de nouvelles perspectives de la structure toute entière des variations génétiques chez toutes les espèces vivantes. La structure peut être révélée à l'aide d'un ensemble de données de variants génétiques provenant d'un locus particulier. Cette invention est utile pour définir le sous-ensemble des variations qui sont le plus appropriées en tant que marqueurs génétiques pour rechercher les corrélations avec certains caractères phénotypiques. De plus, ces perspectives sont utiles pour mettre au point des algorithmes et des programmes informatiques qui convertissent les données de génotype en haplotypes des constituants qui sont difficiles et coûteux à obtenir de manière expérimentale. Cette invention est utile dans des domaines tels que les recherches d'association sur toute l'étendue du génome, (ii) le diagnostic clinique in vitro, (iii) l'amélioration génétique des animaux et des plantes, et (iv) l'identification des micro-organismes.

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