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

ABSTRACT:

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 user-input case-specific information, through an interactive interface, to support variant interpretation. Combining disease- and gene-specific knowledge with variant observations in large cohorts of cases and controls, we refined 14 computational ACMG criteria and created three ICC-specific rules.

Results

We benchmarked CardioClassifier on 57 expertly curated v

SUBMITTER: Whiffin N 

PROVIDER: S-EPMC6558251 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature