Article

Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease risk

2019-02-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Clinically relevant variants exhibit a wide range of penetrance. Medical practice has traditionally focused on highly penetrant variants with large effect sizes and, consequently, classification and clinical reporting frameworks are tailored to that variant type. At the other end of the penetrance spectrum, where variants are often referred to as “risk alleles”, traditional fra...

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Literature Corpus work: baa35723-8906-531e-98f1-90a468095f6c
DOI: 10.1101/556316

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