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mutationexplorer's Introduction

MutationExplorer

MutationExplorer is a lightweight web application for exploring somatic mutations in cancer datasets. It is based on R and the Shiny framework.

MutationExplorer is currently most usable for breast cancer samples, since the relevant biomarkers for patient selection (e.g. clinical status of ER and PgR) are hardcoded.

Features

  • Filtering of mutations by type (nonsense, missense, etc) and COSMIC status
  • Filtering of the patient sample cohort by histological/genomic biomarker status
  • Mutational landscape waterfall plots
  • Kaplan-Meier survival analysis based on gene and pathway mutation status, as well as tumor mutation burden (TMB)
  • Protein plots similar to cBioPortal oncoprints or lollipop plots

Authors

This software was developed as part of a PhD research project in the laboratory of Lao H. Saal, Translational Oncogenomics Unit, Department of Oncology and Pathology, Lund University, Sweden.

Availability

A MutationExplorer instance with the data from 3,217 primary breast tumor transcriptomes from the Sweden Cancerome Analysis Network--Breast (SCAN-B) can be accessed at https://oncogenomics.bmc.lu.se/MutationExplorer.

Citation

Brueffer et al (2020). The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome. EMBO Molecular Medicine, 12(10):e12118. DOI: 10.15252/emmm.202012118

mutationexplorer's People

Contributors

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mutationexplorer's Issues

Integrate TMB plots with mutation type selection

Currently mutation type selection (frameshift, missense etc) is not reflected in tumor mutation burden (TMB) plots. Those plots instead show the burden of all non-synonymous mutations.

Implementing this means making the TMB calculation dynamic, where currently TMB values are expected to be present in the source data.

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