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Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.

Bart J G BroeckxLuc PeelmanJimmy H SaundersDieter DeforceLieven Clement
Published in: BMC bioinformatics (2017)
We developed a novel method and demonstrated that this so-called quantile-based approach is a highly suitable method for variant filtering. In addition, the quantile-based approach can also be used for variant flagging. For user friendliness, lookup tables and easy-to-use R calculators are provided.
Keyphrases
  • machine learning
  • big data