Representativeness of variation benchmark datasets

Abstract 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...

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Bibliographic Details
Main Authors: Gerard C. P. Schaafsma, Mauno Vihinen
Format: Article
Language:English
Published: BMC 2018-11-01
Series:BMC Bioinformatics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12859-018-2478-6