EXCAVATOR CNV

Overview

EXCAVATOR is a bioinformatics tool for copy-number variation (CNV) inference from whole-exome sequencing (WES) data. It uses read-depth normalization and segmentation algorithms to detect somatic and germline CNVs from tumor/normal paired exome capture sequencing.

Used by

• EXCAVATOR v2.2 used to infer CNV from WES data in the PIPseq pediatric precision oncology program at Columbia University Medical Center; CNV findings contributed 7% of clinically impactful results in the 60-patient cWES + RNA-seq cohort PMID:28007021.
• Used to call somatic copy-number variants from whole-exome sequencing in 1001 DLBCL tumors PMID:28985567

Notes

• Version 2.2 was applied in the PIPseq clinical WES pipeline.
• CNV calls were integrated with somatic mutation and fusion data for tumor-board reporting.

Sources

This page was processed by entity-page-writer on 2026-05-15. - PMID:28985567

This page was processed by entity-page-writer on 2026-05-15.