CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.,Genetics in Medicine

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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2018-10-01 , DOI: 10.1038/gim.2017.258
Nicola Whiffin _{1,

2,

3} , Roddy Walsh _{1,

2} , Risha Govind _{1,

2} , Matthew Edwards ₄ , Mian Ahmad _{1,

2} , Xiaolei Zhang _{1,

2} , Upasana Tayal _{1,

2} , Rachel Buchan _{1,

2} , William Midwinter _{1,

2} , Alicja E Wilk _{1,

2} , Hanna Najgebauer _{1,

2} , Catherine Francis _{1,

2} , Sam Wilkinson ₄ , Thomas Monk ₄ , Laura Brett ₄ , Declan P O'Regan ₃ , Sanjay K Prasad _{1,

2} , Deborah J Morris-Rosendahl _{1,

4} , Paul J R Barton _{1,

2} , Elizabeth Edwards _{1,

2} , James S Ware _{1,

2,

3} , Stuart A Cook _{1,

2,

5,

6}

Affiliation

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).

中文翻译：

CardioClassifier：用于临床基因组解释的疾病和基因特异性计算决策支持。

美国医学遗传学和基因组学学院 (ACMG) 国际上采用的变异解释指南是通用的，需要针对特定疾病进行细化。在这里，我们开发了 CardioClassifier (http://www.cardioclassifier.org)，这是一种用于遗传性心脏病 (ICC) 的半自动决策支持工具。

更新日期：2018-01-26

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