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Principal Investigator: Prof. D. Sundar
Co-Investigators: Prof. Ishaan Gupta
Role of the Institution in the GenomeIndia Project: We are working on algorithms and pipelines for de novo assembly of the mitochondrial genome. We aim to generate the Indian mitochondrial genome reference to identify mitochondrial disorders, enumerate variation, and perform population genetics and genomics.
After benchmarking all the available tools (Singh et al. BMC Bioinformatics, 2023), we have optimised our pipeline (available on GitHub linked to GenomeIndia). This is being used to process 50-75 genomes per day at IITD and CBR, having completed the analysis of 5500 genomes. The analysis includes de novo assembly, enumerating mitochondrial heteroplasmy and copy number variation, and unique Nuclear encoded mito- chondria patterns. This data is used for population genetics and functional genomics of measured traits.
