Article

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale Testing

2024-10-25

Abstract excerpt

<title>Abstract</title> <p>DNA sequencing of patients with rare disorders has been highly successful in identifying ''causal variants'' for numerous conditions. However, there are many reports of healthy individuals who harbor these deleterious variants, leading to the concept of incomplete penetrance and doubt about the utility of genetic testing in clinical practice and population screening. As the deleterious...

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Literature Corpus work: 0e52cdd7-8182-5adc-ad2b-1f8a9fbd944b
DOI: 10.21203/rs.3.rs-5262120/v1

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