Interactive multiscale visualization for structural variation in human genomes.

• Project/Documentation: https://chromoscope.bio
• Demo: https://chromoscope.bio/app/

The Chromoscope interface consists of four views for analyzing structural variation in cancer genomes at multiple scales (a–d). Chromoscope uses a "data config" to load datasets via HTTP requests and does not require setting up a server (e). The data can be either stored privately or publicly (e.g., cloud buckets or local servers). Chromoscope captures distinct patterns of structural variations and their copy number footprint in samples with different types of chromosomal instability, such as chromothripsis, or associated with loss of BRCA1 -/-, BRCA2 -/-, or CCNE1 amplification (f-g).

Clone this repo on your local machine first.

Move to the project folder and then install all dependencies using Yarn. You need to install Yarn first if you do not have it installed.

cd chromoscope
yarn install

Run the local instance.

yarn start

Open the browser to see the local Chromoscope.

http://localhost:3000

Install dependencies for the documentation website.

yarn --cwd docs install

Start the local server for the documentation.

yarn start-docs

Open the browser to see the local documentation.

http://localhost:3000/docs

Please cite the following publication:

Sehi L’Yi, Dominika Maziec, Victoria Stevens, Trevor Manz, Alexander Veit, Michele Berselli, Peter J. Park, Dominik Głodzik, and Nils Gehlenborg. Chromoscope: interactive multiscale visualization for structural variation in human genomes. Nat Methods 20, 1834–1835 (2023). https://doi.org/10.1038/s41592-023-02056-x

Chromoscope is funded in part through a grant awarded by Innovation in Cancer Informatics.