Article

Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome

2023-04-25

Abstract excerpt

<h4>Importance</h4> The diagnosis and study of rare genetic disease is often limited to referral populations, leading to underdiagnosis and a biased assessment of penetrance and phenotype. <h4>Objective</h4> To develop a generalizable method of genotype inference based on distant relatedness and to deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) rare variant carriers in a non-referral population...

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Literature Corpus work: f3ac82fa-a63c-5fdf-8cfa-c0da70752a29
DOI: 10.1101/2023.04.19.23288831

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