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. 2022 May 27;8(4):e200005. doi: 10.1212/NXG.0000000000200005

Figure. Whole-Genome-Sequencing-Based Structural Variation Analysis Can Yield Clinical Benefits.

Figure

(A) Copy number variations generated through deletion and duplication; (B) different types of somatic mosaic variations can occur at different time points with varying consequences; (C) LINE-1 (L1) retrotransposons can integrate into target DNA through a “copy-and-paste” mechanism; (D) complementing by RNA sequencing technologies, whole-genome DNA-sequencing-based methods can be used to detect and analyze disease-associated structural variations, which may in turn enhance diagnostic power and enable individualised treatments.