Article
Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome.
Nature communications - 29 Aug 2024
Lancaster Megan C, Chen Hung-Hsin, Shoemaker M Benjamin, Fleming Matthew R, Strickland Teresa L, Baker James T, Evans Grahame F, Polikowsky Hannah G, Samuels David C, Huff Chad D, Roden Dan M, Below Jennifer E
Abstract excerpt
Rare genetic diseases are typically studied in referral populations, resulting in underdiagnosis and biased assessment of penetrance and phenotype. To address this, we develop a generalizable method of genotype inference based on distant relatedness and deploy this to identify undiagnosed Type 5 Long QT Syndrome (LQT5) rare variant carriers in a non-referral population. We identify 9 LQT5 families referred to a...
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