Article

Predictive and Aetiological Potential of Polygenic Strata with Extreme and Moderate Disease Risks Predictions: <i>Case Study of Coeliac Disease GWAS</i>

2019-07-02

Abstract excerpt

<h4>Summary</h4> We show by using example of coeliac disease (CD) that a genomic risk assessment could significantly improve efficiency of disease diagnosing. It can detect novel highly deleterious rare variants (penetrance 100%, frequency ∼1:6,700) as well as common protective variants (penetrance 0.03%, frequency ∼1:3). However, the major translational gains with potential for multi-billion-dollar cost savings...

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Literature Corpus work: 03d0cbe6-2b22-5c04-b1a9-c0870c86c604
DOI: 10.1101/687889

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