An expanded phenotype centric benchmark of variant prioritisation tools
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DOI: 10.1002/humu.24362
Abstract: 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… read more here.
Keywords: disease; benchmark; expanded phenotype; phenotype centric ... See more keywords