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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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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Schaafsma, Gerard C. P., Vihinen, Mauno
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6267811/
https://ncbi.nlm.nih.gov/pubmed/30497376
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2478-6
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