An expanded phenotype centric benchmark of variant prioritisation tools.

Abstract excerpt

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in...

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• Benchmarking
• Computational Biology
• High-Throughput Nucleotide Sequencing
• Mutation, Missense
• Phenotype