Integrative analysis of structural variations using short-reads and linked-reads yields highly specific and sensitive predictions.

ABSTRACT: Genetic diseases are driven by aberrations of the human genome. Identification of such aberrations including structural variations (SVs) is key to our understanding. Conventional short-reads whole genome sequencing (cWGS) can identify SVs to base-pair resolution, but utilizes only short-range information and suffers from high false discovery rate (FDR). Linked-reads sequencing (10XWGS) utilizes long-range information by linkage of short-reads originating from the same large DNA molecule. This can mitigate alignment-based artefacts especially in repetitive regions and should enable better prediction of SVs. However, an unbiased evaluation of this technology is not available. In this study, we performed a comprehensive analysis of different types and sizes of SVs predicted by both the techno

SUBMITTER: Sethi R 

PROVIDER: S-EPMC7721175 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature