Genetic diagnosis using multiple sequence variant analysis

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) G06F 19/00 (2006.01)

Patent

CA 2517478

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 concerne le domaine de l'analyse génétique à base d'acide nucléique, et porte notamment sur de nouvelles intérospections de la structure globale de la variation génétique dans toutes les espèces vivantes. Cette structure peut être mise en évidence avec l'utilisation d'un ensemble de données de variants génétiques issus d'un locus particulier. L'invention est utile pour définir le sous-ensemble de variations qui sont plus appropriées comme marqueurs génétiques pour rechercher des corrélations avec certains caractères phénotypiques. De plus, les intérospections sont utiles dans le développement des algorithmes et des programmes informatiques qui convertissent ces données génotypiques en haplotypes constituants qui sont pénibles et coûteux afin de dériver vers une voie expérimentale. L'invention est utile dans des domaines tels que (i) des études de liaison sur tout le génome, (ii) un diagnostic clinique in vitro, (iii) l'amélioration génétique des populations animales ou végétales, (iv) l'identification de micro-organismes.

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