SATS-package: SATS (Signature Analyzer for Targeted Sequencing)

In SATS: Signature Analyzer for Targeted Sequencing (SATS)

SATS (Signature Analyzer for Targeted Sequencing)

Description

This package is created to perform mutational signature analysis for targeted sequenced tumors. Unlike the canonical analysis of mutational signatures, SATS factorizes the mutation counts matrix into a panel context matrix (measuring the size of the targeted sequenced genome for each tumor in the unit of million base pairs (Mb)), a signature profile matrix, and a signature activity matrix. SATS also calculates the expected number of mutations attributed by a signature, namely signature expectancy, for each targeted sequenced tumor.

Details

This package includes a novel algorithm, SATS, to perform mutational signature analysis for targeted sequenced tumors. The algorithm first applies the signeR algorithm to extract profiles of de novo mutational signatures by appropriately adjusting for various panel sizes. Next, the profiles of identified de novo mutational signatures are mapped to the profiles of catalog signatures of tumor mutation burden (TMB), in the unit of the number of mutations per million base pairs, using penalized non-negative least squares. Then, given the panel sizes and profiles of mapped TMB catalog signatures, signature activities are estimated for all samples simultaneously through the Expectation-Maximization (EM) algorithm. Finally, the expected number of mutations attributed by a signature, namely signature expectancy, is calculated for each targeted sequenced tumor.

The main functions in this package are EstimateSigActivity, CalculateSignatureBurdens, and MappingSignature.

Author(s)

Donghyuk Lee <[e-mail]> and Bin Zhu <[e-mail]>

References

Lee, D., Hua, M., Wang, D., Song, L., Yu, K., Yang, X., Shi, J., Landi, M., Zhu, B. The mutational signatures of 100,477 targeted sequenced tumors. Submitted.

SATS documentation built on Aug. 8, 2025, 6:22 p.m.