Patent ID: 9165253
Filing Date: 2015-10-20
Classification: G06N,G16B

Abstract:
1. A method of calling genomic sequence values in complex calling regions based on a plurality of read values, the method performed by one or more processors executing program instructions stored on one or more memories, the instructions causing the one or more processors to perform the method comprising: a. performing a preliminary sequence alignment based on the reads being positioned with respect to a reference genome at a required confidence level, wherein at least some reads that cannot initially be aligned are combined to form one or more assembly of reads that are utilised during the preliminary alignment; b. identifying a complex calling region where no values satisfy preliminary alignment criteria; c. formulating a plurality of hypotheses as to the sequence values in the complex calling region; d. calculating the probability of each hypothesis representing a correct alignment by evaluating the probability of each hypothesis being correct for the reads and the probability of each hypothesis occurring; and e. selecting the hypothesis best satisfying hypothesis selection criteria.