Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

Predicted loss of function (pLoF) variants are highly deleterious and play an important role in disease biology, but many of these variants may not actually result in loss-of-function. Here we present a framework that advances interpretation of pLoF variants in research and clinical settings by cons...

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Detalles Bibliográficos
Autores principales: Singer-Berk, Moriel, Gudmundsson, Sanna, Baxter, Samantha, Seaby, Eleanor G., England, Eleina, Wood, Jordan C., Son, Rachel G., Watts, Nicholas A., Karczewski, Konrad J., Harrison, Steven M., MacArthur, Daniel G., Rehm, Heidi L., O’Donnell-Luria, Anne
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/PMC10029069/
https://www.ncbi.nlm.nih.gov/pubmed/36945502
http://dx.doi.org/10.1101/2023.03.08.23286955

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