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

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 (www.cardioclassifier.org), a semi-automated decision-support tool for inherite...

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Publicado no:Genet Med
Main Authors: 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 JR, Edwards, Elizabeth, Ware, James S, Cook, Stuart A
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6558251/
https://ncbi.nlm.nih.gov/pubmed/29369293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.258
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