Variation benchmark datasets: update, criteria, quality and applications.

ABSTRACT: Development of new computational methods and testing their performance has to be carried out using experimental data. Only in comparison to existing knowledge can method performance be assessed. For that purpose, benchmark datasets with known and verified outcome are needed. High-quality benchmark datasets are valuable and may be difficult, laborious and time consuming to generate. VariBench and VariSNP are the two existing databases for sharing variation benchmark datasets used mainly for variation interpretation. They have been used for training and benchmarking predictors for various types of variations and their effects. VariBench was updated with 419 new datasets from 109 papers containing altogether 329 014 152 variants; however, there is plenty of redundancy between the datasets. Va

SUBMITTER: Sarkar A 

PROVIDER: S-EPMC6997940 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature