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Split-read Analysis Paired-end Mapping Analysis

Split-read Analysis Paired-end Mapping Analysis

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Deletion<br />

Short insertion<br />

(< Insert Size)<br />

Large insertion<br />

(> Insert Size)<br />

Inversion<br />

Tandem duplication<br />

Translocation<br />

Gain/Loss (CNVs)<br />

SV Detection Methods<br />

<strong>Paired</strong>-<strong>end</strong> mapping Read-depth <strong>Split</strong>-<strong>read</strong> Local assembly<br />

Region / Breakpoint Region Region Breakpoint Breakpoint<br />

Delly: Integrated SV Detection

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