Article

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

2023-09-15

Abstract excerpt

<title>Abstract</title> <p>Rare genetic diseases are typically studied in referral populations, resulting in underdiagnosis and biased assessment of penetrance and phenotype. To address this, we developed a generalizable method of genotype inference based on distant relatedness and deployed this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) rare variant carriers in a non-referral population. We identifie...

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Literature Corpus work: 3426782a-44aa-5dce-a628-d552bc8eb1f9
DOI: 10.21203/rs.3.rs-3314860/v1

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