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

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...

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Detalles Bibliográficos
Autores principales: Lancaster, Megan C., Chen, Hung-Hsin, Shoemaker, M. Benjamin, Fleming, Matthew R., Baker, James T., Evans, Grahame, Polikowsky, Hannah G., Samuels, David C., Huff, Chad D., Roden, Dan M., Below, Jennifer E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10543295/
https://www.ncbi.nlm.nih.gov/pubmed/37790303
http://dx.doi.org/10.21203/rs.3.rs-3314860/v1

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