MutaCheck: A novel pipeline to check for single nucleotide polymorphism (SNP) and associated diseases in mitochondrial DNA

Harini Subramaniam, P. Dhruthi, Devashish, V. Suchithra, Vidya Niranjan
2021 Informatics in Medicine Unlocked  
This project utilizes various online tools and databases along with uniquely written codes to give an insight on diseases in humans associated with mitochondrial DNA. Raw information in the form of sequenced reads was procured from NCBI following which online tools: mtDNAprofiler and Mitomaster were used to get positions of mutations present in the sequence. Finally, data from these online tools was stitched with a Python code to provide a comparison of mutations along with a database of
more » ... sting known pathogenic mutations obtained from ClinVar. We obtain an output that provides the specifications of single nucleotide polymorphs along with their clinical significance in terms of possible conditions and predict possible presence of mitochondrial DNA. Thus, a pipeline is created for the analysis of a mitochondrial DNA genome to detect the presence of pathogenic mutations and predict clinical significance of these mutations.
doi:10.1016/j.imu.2021.100671 fatcat:vkc5nvoib5as7n5h23z3jkihrq