Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome

Abstract 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 T...

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Bibliographic Details
Main Authors: Megan C. Lancaster, Hung-Hsin Chen, M. Benjamin Shoemaker, Matthew R. Fleming, Teresa L. Strickland, James T. Baker, Grahame F. Evans, Hannah G. Polikowsky, David C. Samuels, Chad D. Huff, Dan M. Roden, Jennifer E. Below
Format: Article
Language:English
Published: Nature Portfolio 2024-08-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-51977-4

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https://doi.org/10.1038/s41467-024-51977-4

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