Apparatus and method for detecting internal tandem duplication
AssigneeSamsung Sds Co., Ltd.
InventorsIn-Ho PARK, Choong-Hyun SUN, Hong-Seok YUN, Seung-Mook LEE
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Abstract
According to an illustrative embodiment, provided herein is an internal tandem duplication (ITD) detection apparatus which includes a breakpoint identification unit for identifying two breakpoints in a reference genome sequence based on a plurality of reads, each of which partially matches the reference genome sequence; and an ITD detection unit for generating an ITD reference sequence which includes a base sequence portion spanning between the two breakpoints in the reference genome sequence and a sequential repetition of the base sequence portion.
Claims21
An internal tandem duplication (ITD) detection apparatus, comprising:
- a breakpoint identification unit configured to identify two breakpoints in a reference genome sequence based on a plurality of reads, each of the plurality of the reads partially matches the reference genome sequence;
- and
- an ITD detection unit configured to generate an ITD reference sequence which comprises a base sequence portion spanning between the two breakpoints in the reference genome sequence and a sequential repetition of the base sequence portion.
A method for detecting internal tandem duplication (ITD), the method comprising:
- identifying two breakpoints in a reference genome sequence based on a plurality of reads, each of the plurality of reads partially matches the reference genome sequence;
- and
- generating an ITD reference sequence which comprises a base sequence portion spanning between the two breakpoints in the reference genome sequence and a sequential repetition of the base sequence portion.
Dependencies are inferred from the claim text.