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

IMPORTANCE: 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. OBJECTIVE: To develop a generalizable method of genotype inference based on distant relatedness and to deploy this to i...

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Detalles Bibliográficos
Autores principales: Lancaster, Megan C., Chen, Hung-Hsin, Shoemaker, M. Benjamin, Fleming, Matthew R., Baker, James T., Polikowsky, Hannah G., Samuels, David C., Huff, Chad D., Roden, Dan M., Below, Jennifer E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10168417/
https://www.ncbi.nlm.nih.gov/pubmed/37163006
http://dx.doi.org/10.1101/2023.04.19.23288831

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