SigProfiler

Overview

SigProfiler is a suite of computational tools for mutational signature analysis. It extracts de novo signatures from somatic mutation catalogs using non-negative matrix factorization (NMF) and maps them to the COSMIC reference signatures (SBS, DBS, ID). SigProfilerExtractor identifies the number and composition of active signatures; SigProfilerAssignment assigns known signatures to individual samples.

Used by

• Applied to characterize mutational signatures from somatic SNVs in endometrial polyps; identified SBS1, SBS5, and SBS40 as dominant signatures, with SBS8 and SBS89 additionally called by MutationalPatterns PMID:28445112

Notes

• Companion tool MutationalPatterns can provide complementary or confirmatory signature assignments.
• SBS1/SBS5/SBS40 are associated with age-related processes and are common in normal tissues.
• SBS8 is associated with late-replication errors; its presence in benign lesions is notable.

Sources

• PMID:28445112

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