Inventors:
Charles L. Magness - Seattle WA, US
Dake Sun - Redmond WA, US
Assignee:
Illumigen Biosciences Inc. - Seattle WA
International Classification:
C12Q 1/68
Abstract:
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.