METHODS AND APPARATUS FOR IDENTIFYING ONE OR MORE GENETIC VARIANTS ASSOCIATED WITH DISEASE IN AN INDIVIDUAL OR GROUP OF RELATED INDIVIDUALS

摘要

Methods and apparatus for identifying one or more genetic variants associated with a disease are disclosed. In one arrangement a method comprises receiving input data comprising a set of candidate genetic variants present in an individual or group of individuals. A set of candidate hypothesesis generated. Each candidate hypothesis comprises a set of one or more of the candidate genetic variants. Prioritisation data is received. The prioritisation data represents an initial prioritisation of the candidate hypotheses in relative order of likely validity. A plurality of update steps is performed. Each update step takes as input all of the prioritised candidate hypotheses from a preceding step and up dates the prioritisation using update reference data. A prioritised list of candidate hypotheses is output after the updating of the prioritisation provided by the plurality of update steps.