LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes

BACKGROUND: Loss-of-Function (LoF) variants in human genes are important due to their impact on clinical phenotypes and frequent occurrence in the genomes of healthy individuals. The association of LoF variants with complex diseases and traits may lead to the discovery and validation of novel therap...

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Detalles Bibliográficos
Autores principales: Alasiri, Abdulrahman, Karczewski, Konrad J., Cole, Brian, Loza, Bao-Li, Moore, Jason H., van der Laan, Sander W., Asselbergs, Folkert W., Keating, Brendan J., van Setten, Jessica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9893534/
https://www.ncbi.nlm.nih.gov/pubmed/36732776
http://dx.doi.org/10.1186/s13040-023-00321-5

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