CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

doi:10.1038/gim.2017.258

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Article

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

Whiffin Nicola, Walsh Roddy, Govind Risha, Edwards Matthew, Ahmad Mian, Zhang Xiaolei, Tayal Upasana, Buchan Rachel, Midwinter William, Wilk Alicja E, Najgebauer Hanna, Francis Catherine, Wilkinson Sam, Monk Thomas, Brett Laura, O'Regan Declan P, Prasad Sanjay K, Morris-Rosendahl Deborah J, Barton Paul J R, Edwards Elizabeth, Ware James S, Cook Stuart A

Abstract excerpt

PURPOSE: Internationally adopted variant interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) are generic and require disease-specific refinement. Here we developed CardioClassifier ( http://www.cardioclassifier.org ), a semiautomated decision-support tool for inherited cardiac conditions (ICCs). METHODS: CardioClassifier integrates data retrieved from multiple sources with...

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PMID: 29369293
DOI: 10.1038/gim.2017.258
PMCID: PMC6558251

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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