Methods and systems for universal carrier screening

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01) G06F 19/18 (2011.01) C12M 1/34 (2006.01) C40B 30/04 (2006.01)

Patent

CA 2723296

Provided herein are methods, systems, and devices for genetic screening. The genetic screening of two or more individuals can be utilized to predict the phenotype of a child from the group of individuals. Also disclosed is prediction of a phenotype of a child from a subset of biological relatives, such as a potential mother and father, before conception. In many instances, the methods, systems and devices herein are utilized to predict the probability of a child developing a rare genetic disease.

L'invention porte sur des procédés, des systèmes et des dispositifs destinés à un dépistage génétique. Le dépistage génétique de deux individus ou plus peut être utilisé pour prédire le phénotype d'un enfant à partir du groupe d'individus. L'invention porte également sur la prédiction d'un phénotype d'un enfant à partir d'un sous-ensemble de parents biologiques, tels qu'une mère et un père potentiels, avant conception. Dans de nombreux cas, les procédés, systèmes et dispositifs sont utilisés ici pour prévenir la probabilité d'un enfant développant une maladie génétique rare.

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