SYSTEM AND METHOD FOR ALLELE INTERPRETATION USING A GRAPH-BASED REFERENCE GENOME

摘要

A method (100) for generating a graph-based reference genome, comprising: (i) receiving (120) one or more older versions of a current reference genome, each comprising a plurality of nodes identifying the version of the reference genome and a location within that version for the respective node; (ii) aligning (130) each older version of the reference genome to the current reference genome to generate a graph-based reference genome, wherein the alignment is based on the location information; (iii) extracting (140), from a corpus of references, an allele and contextual information associated with the allele, wherein the respective reference identifies the version of the reference genome and a location of the allele within the version; and (iv) mapping (150) the allele and associated contextual information onto a node of the graph-based reference genome, based on the identified version of the reference genome and the location of the extracted allele within that version.