CARDIO CLASSIFIER v0.2.0

About CardioClassifier

CardioClassifier is an automated and interactive web tool, that supports disease specific interpretation of genetic variants in genes associated with Inherited Cardiac Conditions (ICCs), according to guidelines released by the American College of Medical Genetics and Genomics (Richards et al. 2015).

THE TOOL

CardioClassifier takes as input either details of an individual variant, or a list of variants uploaded in VCF file format. Users can select a disease/sub-panel of interest to create a genetic report. Currently analysis is performed over up-to 40 genes with definitive association with 11 cardiac disorders, although we plan to expand this to all genes on the TruSight Cardio sequencing panel (Pua et al. 2015) in the future.

This current version of the tool is in beta, please contact us if you find any issues or have any suggestions for improvement.

If publishing work using CardioClassifier, please cite our paper: Whiffin N et al. Genetics in Medicine 20,1246 (2018).

THE TEAM

CardioClassifier was developed by the Cardiovascular Genetics and Genomics team based at Imperial College London., the Royal Brompton Hospital and the MRC London Institute of Medical Sciences. We have developed a number of other resources that can be found at cardiodb.org.

LICENSING

CardioClassifier is made available under the Terms of use available here and is for not-for-profit Use Only. If your usage or Institution/Company falls outside these terms, please contact us to discuss your needs, we would be very happy to hear from you.

EXTERNAL FUNDING

This tool was created with support from the Department of Health and Wellcome Trust through the Health Innovation Challenge Fund*. We are also grateful to the British Heart Foundation and Medical Research Council London Institute of Medical Sciences for their support.

*This work represents independent research commissioned by the Health Innovation Challenge Fund (HICF-R6-373), a parallel funding partnership between the Department of Health and Wellcome Trust. The views expressed on this website are those of the authors and not necessarily those of the Department of Health or Wellcome Trust.