Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

BACKGROUND: Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid substitutions on protein function. It is vital that we better understand their accuracies and limitations because published performance m...

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Detalles Bibliográficos
Autores principales: Mahmood, Khalid, Jung, Chol-hee, Philip, Gayle, Georgeson, Peter, Chung, Jessica, Pope, Bernard J., Park, Daniel J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433009/
https://www.ncbi.nlm.nih.gov/pubmed/28511696
http://dx.doi.org/10.1186/s40246-017-0104-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433009/
https://www.ncbi.nlm.nih.gov/pubmed/28511696
http://dx.doi.org/10.1186/s40246-017-0104-8

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