GeneticThesaurus

[PMID:26545822] [Bioinformatics]

Comparison of genetic variants in matched samples using thesaurus annotation

“In benchmarks on matched normal/tumor samples we show that the technique can recover between five and ten percent more true events than conventional approaches, while strictly limiting false discovery and being fully consistent with popular variant analysis workflows. We also demonstrate the utility of the approach for analysis of de novo mutations in parents/child families.”

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