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Cardiovascular Genetics and Genomics

Web Resources for the Cardiovascular Genetics and Genomic Group, Royal Brompton and Harefield NHS Trust. Major Resources and Applications. Below are the major resources and applications based on our published research studies that are publicly accessible. Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions. Genetics in Medicine 2017. Atlas of Cardiac Genetic Variation.

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Cardiovascular Genetics and Genomics | cardiodb.org Reviews
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Web Resources for the Cardiovascular Genetics and Genomic Group, Royal Brompton and Harefield NHS Trust. Major Resources and Applications. Below are the major resources and applications based on our published research studies that are publicly accessible. Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions. Genetics in Medicine 2017. Atlas of Cardiac Genetic Variation.
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Cardiovascular Genetics and Genomics | cardiodb.org Reviews

https://cardiodb.org

Web Resources for the Cardiovascular Genetics and Genomic Group, Royal Brompton and Harefield NHS Trust. Major Resources and Applications. Below are the major resources and applications based on our published research studies that are publicly accessible. Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions. Genetics in Medicine 2017. Atlas of Cardiac Genetic Variation.

INTERNAL PAGES

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1

APPRAISE

https://www.cardiodb.org/APPRAISE

APPRAISE - Assessing Pathogenicity Probablility in Arrhythmia by Integrating Statistical Evidence - is a Bayesian logistic regression model that integrates multiple lines of evidence to evaluate the probability that a rare variant found in an individual with long QT syndrome is the cause of their disease (manuscript in submission). This evidence includes the and domain containing the variant, variant class, SIFT/Polyphen/Grantham missense predictions, conservation and frequency in population database...

2

Titin Variation in Dilated Cardiomyopathy - Cardiovascular Genetics & Genomics, Imperial College London

https://www.cardiodb.org/titin

Titin Variants in Dilated Cardiomyopathy. TTN Transcript / Exon Structure and Truncating Variants in Cardiomyopathy Studies. Titin (TTN) is the largest protein in humans, and TTN truncating variants (TTNtv; SNPs that lead to premature stop codons, indels that cause frameshifts in the coding sequence and variants that disrupt canonical splice sites) have recently been shown to be the leading genetic cause of Dilated Cardiomyopathy (DCM), present in up to 25% of cases ( Herman et al, NEJM 2012. A M Roberts...

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Cardiovascular Genetics and Genomics

Web Resources for the Cardiovascular Genetics and Genomic Group, Royal Brompton and Harefield NHS Trust. Major Resources and Applications. Below are the major resources and applications based on our published research studies that are publicly accessible. Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions. Genetics in Medicine 2017. Atlas of Cardiac Genetic Variation.

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