APPARATUS AND METHOD FOR EXTRACTING PARTIAL TANDEM DUPLICATION OF GENOME

摘要

Disclosed are an apparatus and a method for detecting duplication, capable of precisely detecting the partial tandem duplication by analyzing a base of genome. An apparatus for detecting duplication according to an embodiment of the present invention includes: an alignment module for performing an exact matching to a reference sequence of reads for a target gene; a breakpoint reading module that reads out breakpoints at both ends of a duplication section in the target gene from the reads that do not match with the reference sequence; a distance measurement module for measuring a distance between paired-end reads that match with the reference sequence and extracting a read having an abnormal distance value among the measured distance values; a counting module for dividing the reference sequence into a plurality of intervals and counting the number of matched reads for each of the intervals as a result of the matching; and a determination module for determining whether or not partial tandem duplication (PTD) has occurred in a partial section of the target gene inputted based on at least one of the reads having the abnormal distance value and the number of the reads counted at each interval.