title: Detection of copy number variation using scale space filtering.
abstract: This study proposes a novel CNV detection algorithm based on scale space filtering. It uses Gaussian filter for the convolution with a scale parameter. The range of the scale parameter is adjusted according to the coverage level of read data. The position of a CNV region is determined through a coarse and a fine searches over the scales. The results showed low dependency of the performance of the proposed method on the coverage level compared to the conventional methods. The results also showed that the proposed method outperforms the conventional methods by 63.29 ~ 73.57 %.
authors.affiliation: Department of Computer Engineering, Hallym University, Korea. jongkeun@hallym.ac.kr
authors.forename: Jongkeun
authors.initials: J
authors.lastname: Lee
authors.forename: Baeksop
authors.initials: B
authors.lastname: Kim
authors.forename: Jeehee
authors.initials: J
authors.lastname: Yoon
authors.forename: Unjoo
authors.initials: U
authors.lastname: Lee
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D056915:DNA Copy Number Variations / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D018628:Gene Dosage / Q000235:genetics*; D008969:Molecular Sequence Data; D017422:Sequence Analysis, DNA / Q000379:methods*