Chromoscope: Interactive Visualization for Clinical Interpretation of Whole Cancer Genomes
A detailed analysis of whole DNA sequences holds the promise of identifying novel ways to cure and diagnose cancer. However, the size and complexity of the data, as well as the difficulty in obtaining highly sensitive and specific mutation calls, prevent physicians and scientists from interpreting complete DNA profiles. To facilitate the clinical interpretation of cancer genomes, we built Chromoscope, a web application for visualization of mutations in cancer, especially for structural alterations of chromosomes. The Chromoscope platform (https://chromoscope.bio/) allows the user to load their samples and view the mutations at multiple scales, from the scale of chromosomes, through genes, to individual sequencing reads. We will extend Chromoscope to provide an interactive overview of each cancer case and support a comparative analysis of groups of cancers. We will prepare interactive visualizations of cancer genome datasets from thousands of patients from newly published cohorts, as a resource for reference and discovery. The platform will facilitate genomic education for the public and clinicians and ultimately enable the discovery of clinically relevant features in cancer genome data and accelerate the use of whole cancer genomes in clinical applications.
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Nature Methods
Sehi L’Yi, Dominika Maziec, Victoria Stevens, Trevor Manz, Alexander Veit, Michele Berselli, Peter J. Park*, Dominik Głodzik* & Nils Gehlenborg*. Chromoscope: interactive multiscale visualization for structural variation in human genomes