Methods of identifying point mutations in a genome

Details Methods of identifying point mutations in a genome Methods of identifying point mutations in a genome

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2354322

The invention relates to a method for identifying inherited point mutations in a targeted region of the genome in a large population of individuals and determining which inherited point mutations are deleterious, harmful or beneficial. Deleterious mutations are identified directly by a method of recognition using the set of point mutations observed in a large population of juveniles. Harmful mutations are identifed by comparison of the set of point mutation observed in a large set of juveniles and a large set of aged individuals of the same population. Beneficial mutations are similarly identified.

Cette invention concerne un procédé permettant d'identifier des mutations ponctuelles héréditaires dans une région ciblée du génome d'une grande population d'individus et de déterminer quelles mutations ponctuelles sont délétères, nuisibles ou bénéfiques. Les mutations délétères sont directement identifiées par une technique de reconnaissance qui utilise l'ensemble des mutations ponctuelles observées dans une grande population d'individus jeunes. Les mutations nuisibles sont identifiées par comparaison de l'ensemble des mutations ponctuelles observées parmi un ensemble d'individus jeunes et parmi un ensemble d'individus âgés d'une même population. Les mutations bénéfiques sont identifiées de la même façon.

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