WHATIF (Wisconsin Hierarchical Analysis Tool of Incidental Findings), a standalone desktop executable to support the analysis of incidental findings using the ACMG recommendation. WHATIF integrates the EBI Variant Effect Predictor (VEP) tool for biological interpretation and the NCBI ClinVar tool for clinical interpretation. WHATIF scores are created to prioritize the importance of variants and to minimize the potential workload of evaluating the variants.
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WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.
Ye Z, Kadolph C, Strenn R, Wall D, McPherson E, Lin S.
Comput Biol Med. 2015 Apr 8. pii: S0010-4825(15)00106-7. doi: 10.1016/j.compbiomed.2015.03.028.