Method and apparatus for pattern identification in diploid...

Details Method and apparatus for pattern identification in diploid... Method and apparatus for pattern identification in diploid...

G - Physics

06

F

G06F 19/22 (2011.01) C12Q 1/68 (2006.01) C40B 30/02 (2006.01)

Patent

CA 2535777

This invention provides methods for identifying mutations and methylation patterns in diploid DNA sequence signal data. In particular, the invention provides methods for (1) obtaining two parental allele sequences from diploid DNA sequence signal data, (2) identifying the mutation and haplotype patterns in the two parental allele sequences, (3) assigning likelihood scores for the mutations thus identified, and (4) identifying patterns of methylation.

Cette invention concerne des méthodes d'identification de modèles de mutation et de méthylation dans des données de signalisation de séquences d'ADN diploïde. L'invention concerne en particulier des méthodes qui permettent: 1) d'obtenir deux séquences allèles parentales à partir des données de signalisation de séquences d'ADN diploïde; 2) d'identifier le modèle de mutation et le modèle d'haplotype dans les séquences allèles parentales; 3) d'effectuer des calculs de probabilité pour les mutations ainsi identifiées; et 4) d'identifier des modèles de méthylation.

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