One area of medicine that is changing fast is clinical genetics. More and more, diagnostic tests are shifting toward genome and exome-wide screenings that are less biased. variations of unclear clinical relevance, difficulties in interpreting variations, and secondary findings are all results of this. In order to better understand uncommon diseases and pharmacogenomics, this research investigated how phenotypic and whole genome sequence (WGS) data may be used. Bardet Biedl syndrome (BBS): a molecular foundation for two cases was attempted to be clarified using WGS. Variants were filtered based on inventiveness, copy number losses or gains were identified using bioinformatics approaches, and known ciliopathy and other genes were examined.