Mutation detection and identification

Details Mutation detection and identification Mutation detection and identification

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) G01N 33/74 (2006.01) G06F 19/00 (2006.01)

Patent

CA 2481905

The present teachings disclose methods for evaluation of sequence information to characterize putative heterozygous indel mutations. The mutation analysis methods 300, 400 utilize sequence and trace information 504 to identify mixed- base presence 510 resulting from allelic differences. These methods 300, 400 may be applied to identify and resolve single nucleotide polymorphisms, insertions, deletions, and other mutational events.

Cette invention a trait à des méthodes d'évaluation d'informations relatives à une séquence aux fins de la caractérisation de mutations <= indel >= hétérozygotes supposées. Ces méthodes d'analyse (300, 400) utilisent des informations de séquence et de trace (504) pour identifier une présence de base mélangée (510) résultant de différences alléliques. Il est possible d'utiliser ces méthodes (300, 400) pour identifier et définir des polymorphismes nucléotidiques uniques, des insertions, des délétions et autres manifestations de mutation.

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