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MutaCheck: A novel pipeline to check for single nucleotide polymorphism (SNP) and associated diseases in mitochondrial DNA
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
doi:10.1016/j.imu.2021.100671
fatcat:vkc5nvoib5as7n5h23z3jkihrq