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Representativeness of variation benchmark datasets

BACKGROUND: Benchmark datasets are essential for both method development and performance assessment. These datasets have numerous requirements, representativeness being one. In the case of variant tolerance/pathogenicity prediction, representativeness means that the dataset covers the space of varia...

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Detalles Bibliográficos
Autores principales: Schaafsma, Gerard C. P., Vihinen, Mauno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267811/
https://www.ncbi.nlm.nih.gov/pubmed/30497376
http://dx.doi.org/10.1186/s12859-018-2478-6