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Updated: Jan 17, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
mSigSDK - private computation of mutation signatures
Aaron Ge1,2, Tongwu Zhang1, Yasmmin Côrtes Martins3
1-Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Maryland, USA.
Abstract:
In our previous work, we demonstrated that it is feasible to perform analysis on mutation signature data without the need for downloads or installations and analyze individual patient data without compromising privacy. Building on this foundation, we developed an in-browser Software Development Kit (a JavaScript SDK), mSigSDK, to facilitate the orchestration of distributed data processing workflows and graphic visualization of mutational signature analysis results. We strictly adhered to modern web computing standards, particularly the modularization standards set by the ECMAScript ES6 framework (JavaScript modules). Our approach allows for the computation to be entirely performed by secure delegation to the computational resources of the user's own machine (in-browser), without any downloads or installations. The mSigSDK was developed primarily as a companion library to the mSig Portal resource of the National Cancer Institute Division of Cancer Epidemiology and Genetics (NIH/NCI/DCEG), with a focus on FAIR extensibility as components of other researchers' own data science constructs. Anticipated extensions include the programmatic operation of other mutation signature API ecosystems such as SIGNAL and COSMIC, advancing towards a data commons for mutational signature research (Grossman et al., 2016).
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