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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Yuan et al. recently described an independent evaluation of several phenotype-driven gene prioritization methods for Mendelian disease on two separate, clinical datasets. Although they attempted to use default settings for each tool, we describe three key differences from those we currently recommen...

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Detalles Bibliográficos
Autores principales:	Jacobsen, Julius O B, Kelly, Catherine, Cipriani, Valentina, Robinson, Peter N, Smedley, Damian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Letter to Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9487604/ https://www.ncbi.nlm.nih.gov/pubmed/35595299 http://dx.doi.org/10.1093/bib/bbac188

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