ShatterSeek

Overview

ShatterSeek is a computational algorithm that detects chromothripsis — a catastrophic, one-step rearrangement process producing complex structural variants — from whole-genome sequencing data. It integrates copy-number oscillation patterns and structural breakpoint clustering to identify samples with chromothriptic events.

Used by

• Applied to deep WGS data from 38 cutaneous melanoma samples; complex structural rearrangements detected by ShatterSeek were significantly enriched in the Triple-WT subtype (11/16 ShatterSeek events in Triple-WT, Fisher’s p = 0.00098); 7/7 Triple-WT samples with complex rearrangements lacked the UV mutational signature, suggesting an alternative mutational mechanism. PMID:26091043

Notes

• Requires deep WGS for reliable chromothripsis calling; low-pass WGS is insufficient.
• In TCGA SKCM, 119 additional low-pass WGS samples were used for copy-number segmentation but not for ShatterSeek analysis.

Sources

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