A method for determining an alignment of segments of a genome

摘要

Disclosed herein is a method for determining an alignment of segments of a genome for use in genome diagnostics. The method comprises obtaining a plurality of segments of a sequence of nucleotides associated with a subject genome, the plurality of segments including one or more variants, determining a plurality of alternative alignments of the variants, wherein each of the plurality of alternative alignments defines one way of aligning the plurality of segments to form the string of nucleotides, scoring the plurality of alternative alignments, and selecting one of the plurality of alternative alignments based on the score.