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Principal Investigator: Dr. Mohammad Faruq (Senior Principal Scientist, CSIR-IGIB)
Contributors: Dr. Sridhar Sivasubbu, Dr. Vinod Scaria, Pooja Sharma, Shreya Bari, Tiyasha De, Bharathram Upilli, Sandeep Kumar Pal, Rahul Kumar Bhoyar, Bani Jolly, Arushi Batra, Shahrumi Reza, Dr. Simmy Kaur, Dr. Mahino Fatima, Mohammed Akbar, Aishwarya Shankar, Gayatri Singh, Suman Mudila, Divya Goel, Saima Iram, Chavvi Sharma, Aroosa Mir, Mitali Mukerji
Role of the Institution in the GenomeIndia Project: CSIR-IGIB played an important role in preparatory phase of GenomeIndia as well as towards the core deliverable of the program. CSIR-IGIB is one of the four whole genome sequencing centres and is responsible for the collection of samples (n=3390) and the sequencing of 2296 human genome samples for the GenomeIndia 10000 target.
Central to the success of this project is the meticulous process of sample collection. IGIB has successfully collected 3006 samples across 23 ethnicities. The collection camps were set in various districts and re- mote villages in around 7 Indian states. The team ensured the collection of maximum unrelated samples and Trios. All the collected samples have been processed for Biobanking. Biochemistry and Phenotype data has been submitted to CBR for all the collected samples.
IGIB has completed the whole genome sequencing of 2515 samples along with 1691 samples for GSA. Out of the 2515 sequenced samples, GVCF generation has been completed for 1761 samples. Data of 1532 samples in the form of FASTQ and GVCF has been successfully transferred to CBR and IBDC.
CSIR-IGIB is leader and pioneer in the area of medical genomics. CSIR-IGIB has carried out the analysis of Clinically relevant variations (ACMG actionable genes), Pharmacogenics marker analysis in GenomeIndia, frequency data and their implications as well as finding frequency of pathogenic variations in various rare genetic disorders like Sickle cell anemia, thalessemia etc.
