Abstract: A marker composition, a kit, a gene panel, and a method which are for providing information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration are disclosed. The marker composition, kit, gene panel, and method are novel tools that can provide information for predicting the occurrence of, diagnosing, or treating age-related macular degeneration, and has excellent sensitivity and can be easily analyzed without the use of a biopsy, and thus can be effectively used for the early diagnosis of age-related macular degeneration.

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.

Abstract: An apparatus and method for extracting biomarkers with higher reliability by analyzing toxicity indicating how genetic variants appearing in sequences affect gene functions are provided. The apparatus includes a pre-processor that analyzes sequences of samples of genes and extracts data of genetic variants mapped to the genes, a toxicity prediction unit that obtains toxicity scores obtained by quantifying genetic dysfunctions affected by the data of genetic variants, and a modularization unit that searches for a least one sub-module including a set of genes whose toxicity scores exceed a predetermined critical value from a genetic network.