A cloud-based collaboration platform for the analysis and sharing of genome sequencing data

What is CardioGX?

CardioGX (CardioGenomics eXchange commons) is an interactive, easy-to-use web application that enables users to upload, explore, and analyze variant call format (VCF) files generated through whole genome/whole exome sequencing. The platform has a unique discussion board to foster collaboration between users and eventually build a user community to help deal with some of the rare, complex genetic diseases of the heart. The application is designed to assist users with identification of gene-phenotype associations and help identify disease-causing variants in patients with congenital heart disease.

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This project was made possible with funding support from The American Heart Association Institute for Precision Cardiovascular Medicine grant 17IG33630060.

Phenotype-Driven Variant Analysis

Upload, browse, and filter a VCF and identify disease-causing variants or genes by entering phenotypes of the individual being investigated and comparing with previously reported gene-disease associations.

Public Knowledgebase Retrieval

Access various existing public knowledgebases (Online Mendelian Inheritance in Man [OMIM], ClinVar, NCBI GeneRIFs, and Mouse Genome Database) that match your phenotype term(s) and provide information about specific genomic findings in humans and animal models.

Variant Annotation and Filtering

Upload a VCF and annotate the variants to display their impact on the functions of genes and proteins; filter data based on these annotations to prioritize variants.

Discussion Forums

A discussion forum is attached to each VCF, so that everyone with permissions to view the VCF can leave comments.

Share Data and Establish Collaborations

Users can share their VCF and specifically invite others to collaborate through the CardioGX dashboard.

Contact Us

Help us improve CardioGX, we welcome your feedback.

Explore & Collaborate