An article published in Epigenetics and Chromatin discusses a novel and user-friendly tool—Var∣Decrypt—to derive patient-specific functional information and to prioritize gene variants for functional analyses.
, sample m_13_D from our cohort contains ~ 30-fold more variants than the average of the other samples, likely arising from technical issues during the sequencing or sample handling procedure. Such problematic samples can, therefore, be quickly spotted and excluded from further analyses. Finally, the top 20 mutated genes are shown with the same color code as for the variant types, to get an overview of the recurrently mutated genes .General overview of the WES datasets.
By navigating in the somatic menus, users can in one click access the gene mutations frequencies , an important feature allowing to point at key genes likely involved in the disease phenotype. One key step in the discovery of cancer drivers is to be able to pinpoint the recurrently mutated genes within patient cohorts, as recurrently mutated genes likely represent true oncogenic drivers or genes important to sustain the cells’ transformed state.
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