Figure 1

Flowchart describing the method (designed and implemented in this study) – displays summary of Weighted Scores (WS). The flowchart depicts that input can either be variation or sequence data. In case sequence data is provided, it is converted to variation data. Although the variation data is generated by comparison with rCRS, the most common normal base is used to compare the frequency of the variation in patients and normal individuals. The variation is scanned for reported or predicted functional impact only if its frequency is higher in patients or the variation is absent in the normal individuals. Each variation is tested for its reported or predicted functional impact based on its genomic context (in protein coding genes/tRNA/rRNA, etc). A Weighted Score is assigned to each variation based on the information obtained from literature and the in silico prediction tools (scores shown in pink boxes). As seen in the inset, the scoring scheme is conceptually driven following the Central Dogma and the scores range from 1 to 10, where a more deleterious variation gets a higher score. The parameters and scores are implemented in a flexible manner to ensure their easy modification and updation with the advent of new information.