DINTD: Detection and Inference of Tandem Duplications From Short Sequencing Reads.

ABSTRACT: Tandem duplication (TD) is an important type of structural variation (SV) in the human genome and has biological significance for human cancer evolution and tumor genesis. Accurate and reliable detection of TDs plays an important role in advancing early detection, diagnosis, and treatment of disease. The advent of next-generation sequencing technologies has made it possible for the study of TDs. However, detection is still challenging due to the uneven distribution of reads and the uncertain amplitude of TD regions. In this paper, we present a new method, DINTD (Detection and INference of Tandem Duplications), to detect and infer TDs using short sequencing reads. The major principle of the proposed method is that it first extracts read depth and mapping quality signals, then uses the DBSCA

SUBMITTER: Dong J 

PROVIDER: S-EPMC7433346 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature